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Wyświetlanie 1-13 z 13
Tytuł :
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Autorzy :
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: .
Kalvakuri S; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA.
de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Geuer S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Oud M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
van Outersterp I; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Kwint M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Witmond M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Kersten S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen the Netherlands.
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 70040-031 Brasília, Brazil.
Weijers D; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Begtrup A; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
McWalter K; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
Ruiz A; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
Morton JEV; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston B15 2TG, UK.
Griffith C; Department of Pediatrics, University of South Florida, Tampa, FL 33606, USA.
Weiss K; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Gamble C; Cook Children's, 801 7th Ave, Fort Worth, TX 76104, USA.
Bartley J; Pediatric Specialty Clinics, Loma Linda University, 11234 Anderson St., Loma Linda, CA 92354, USA.
Vernon HJ; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Brunet K; Porcupine Health Unit, 169 Pine St S, Timmins, ON P4N 2K3, Canada.
Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.
Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.
Kruszka P; National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20814, USA.
Larson A; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Afenjar A; CRMR malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Département de génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France.
Billette de Villemeur T; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.
Nugent K; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.
Raymond FL; Department of Medical Genetics, University of Cambridge, CB2 0XY Cambridge, UK.
Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences (RIMLS), PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Demurger F; Centre Hospitalier Bretagne Atlantique, 20 Boulevard Général Maurice Guillaudot, BP 70555, 56017 Vannes Cedex, France.
Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.
Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.
Hayes I; Genetic Health Service New Zealand, 2 Park Road, Grafton, Auckland 1023, New Zealand.
Hamilton NP; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
Ahmad A; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
Fisher R; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
van den Born M; Department for Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA Rotterdam, the Netherlands.
Willems M; Centre Hospitalier Universitaire de Montpellier, 191 av. du Doyen Giraud, 34295 Montpellier Cedex 5, France.
Sorlin A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
Delanne J; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, 33401 Talence, France.
Christophe P; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Mau-Them FT; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Vitobello A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.
Massingham L; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Schwab J; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
Charles P; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
Vreeburg M; Department of Clinical Genetics, Maastricht UMC+, Postbus 5800, 6202 AZ Maastricht, the Netherlands.
De Simone L; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.
Hoganson G; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.
Iascone M; Laboratorio di genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatric Highly Intensive Care Unit, Milan, 20122, Italy.
Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
Revencu N; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
Ward DI; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.
Burns K; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.
Krantz I; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Raible SE; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Murrell JR; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Wood K; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Cho MT; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Muenke M; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Bodmer R; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA. Electronic address: .
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
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Corporate Authors :
DDD Study; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 164-172. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Autorzy :
Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Selmer KK; Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway.; The National Center for Epilepsy, Oslo University Hospital, Oslo, Norway.
Dimartino C; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Blanco-Sánchez B; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Yang S; GeneDx, Gaithersburg, MD, USA.
Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
van Essen AJ; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Oufadem M; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Vigeland MD; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Stadheim B; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Cox H; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Kingston H; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
Innis JW; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Iascone M; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Gabbiadini S; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
Sanders V; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Charrow J; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Bryant E; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Millichap J; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Vitobello A; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France.
Thauvin C; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Reference maladies rares 'Anomalies du Developpement et syndrome malformatifs' de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Mau-Them FT; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France.
Faivre L; INSERM UMR1231 GAD, Dijon, France.; Centre de Reference maladies rares 'Anomalies du Developpement et syndrome malformatifs' de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Lesca G; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Labalme A; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France.
Chatron N; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Sanlaville D; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Christensen KM; Saint Louis University School of Medicine, St. Louis, MO, USA.
Kirby A; Saint Louis University School of Medicine, St. Louis, MO, USA.
Lewandowski R; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA, USA.
Gannaway R; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA, USA.
Aly M; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Clarke L; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Graul-Neumann L; Institute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lozic B; Department of Pediatrics, University Hospital Centre Split; University of Split, School of medicine, Split, Croatia.
Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Peretz R; Driscoll Children's Hospital, Corpus Christi, TX, USA.
Stratton R; Driscoll Children's Hospital, Corpus Christi, TX, USA.
Smol T; Institut de Génétique Médicale, CHU Lille, Lille, France.; Université de Lille, EA 7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, Lille, France.
Dieux-Coëslier A; Institut de Génétique Médicale, CHU Lille, Lille, France.
Meira J; Division of Medical Genetics, University Hospital Professor Edgard Santos/ Federal University of Bahia (UFBA), Salvador, Bahia, Brazil.
Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Beaver EM; Mercy Kids Genetics, Mercy Children's Hospital, St. Louis, MO, USA.
Heeley J; Mercy Kids Genetics, Mercy Children's Hospital, St. Louis, MO, USA.
Briere LC; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Walker MA; Department of Pediatric Neurology, Massachusetts General Hospital for Children, Boston, MA, USA.
Keegan CE; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Earl DL; Seattle Children's Hospital, Seattle, WA, USA.
Siu VM; University of Western Ontario, London, ON, Canada.
Reesor E; University of Western Ontario, London, ON, Canada.
Yao T; University of Western Ontario, London, ON, Canada.
Hegele RA; University of Western Ontario, London, ON, Canada.
Vaske OM; Department of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, USA.
Rego S; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Shapiro KA; Cortica Healthcare, San Diego, CA, USA.
Wong B; Cortica Healthcare, San Diego, CA, USA.
Gambello MJ; Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA, USA.
McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Karlowicz D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Colombo R; Faculty of Medicine, Catholic University, IRCCS Policlinico Gemelli, Rome, Italy.; Center for the Study of Rare Hereditary Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Serretti A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Wray A; Royal Children's Hospital, Melbourne, Australia.
Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Christodoulou J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Barbouth D; Dr John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Morel Swols D; Dr John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Parisot M; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker INSERM UMR1163, Paris, France.; INSERM US24/CNRS UMS3633, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker INSERM UMR1163, Paris, France.; INSERM US24/CNRS UMS3633, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Nitschké P; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Bioinformatics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
Pingault V; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Munnich A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Cho MT; GeneDx, Gaithersburg, MD, USA.
Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, Paris, France.
Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Lyonnet S; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Amiel J; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Gordon CT; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France. .; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France. .
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Corporate Authors :
Undiagnosed Diseases Network, Care4Rare Canada Consortium
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1215-1226. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Autorzy :
Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Hayot G; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.
Courraud J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Hinckelmann MV; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Mau-Them FT; Laboratoire de Génétique Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon 21070, France; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon 21070, France.
Sellier C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Goldman A; Department of Neurology, Neurophysiology Section, Baylor College of Medicine, Houston, TX 77030, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Boughton A; Cook Children's Genetics Fort Worth, TX 76104, USA.
Gamble C; Cook Children's Genetics Fort Worth, TX 76104, USA.
Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon 21070, France; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs,' Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon 21070, France.
Quartier A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Jean N; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon 21070, France; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs,' Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon 21070, France.
Van Ness P; Department of Neurology, Neurophysiology Section, Baylor College of Medicine, Houston, TX 77030, USA.
Grotto S; Service de Génétique Médicale, AP-HP Robert-Debré, Paris 75019, France.
Nambot S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon 21070, France; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs,' Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon 21070, France.
Douglas G; GeneDx, Gaithersburg, MD 20877, USA.
Si YC; GeneDx, Gaithersburg, MD 20877, USA.
Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France.
Shad Z; Department of Genetics, University of Illinois College of Medicine, Chicago, IL 60607, USA.
Kaplan E; Department of Genetics, University of Illinois College of Medicine, Chicago, IL 60607, USA.
Dineen R; Department of Genetics, University of Illinois College of Medicine, Chicago, IL 60607, USA.
Golzio C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Charlet-Berguerand N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France.
Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; University of Strasbourg Institute of Advanced Studies, Strasbourg 67000, France.
Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Apr 02; Vol. 106 (4), pp. 438-452. Date of Electronic Publication: 2020 Mar 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Frameshift Mutation/*genetics
Nerve Tissue Proteins/*genetics
Neurodevelopmental Disorders/*genetics
Neurons/*physiology
RNA Splicing/*genetics
RNA-Binding Proteins/*genetics
Alternative Splicing/genetics ; Animals ; Axon Guidance/genetics ; Base Sequence/genetics ; Cells, Cultured ; Child, Preschool ; Down-Regulation/genetics ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics ; Language Development Disorders/genetics ; Male ; Mice ; Muscle Hypotonia/genetics ; Zebrafish/genetics
Czasopismo naukowe
Tytuł :
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Autorzy :
Sanchez E; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.
Laplace-Builhé B; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.
Mau-Them FT; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm-Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Richard E; IRCM, INSERM, U1194 Univ Montpellier, Montpellier, France.
Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Reference Center for Developmental Disorders, Rouen, France.
Toler TL; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Guignard T; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.
Gatinois V; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.
Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France.
Blanchet C; Service ORL, Montpellier, France.
Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Bihoreau MT; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
Nephi W; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Lüdecke HJ; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Verheij JBGM; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Moreau-Lenoir F; ORL CH d'Evreux, Évreux, France.
Denoyelle F; Service d'ORL pédiatrique, Hôpital Universitaire Necker-Enfants Malades, APHP et François Jacob, CEA, Université Paris-Saclay, Evry, France.
Rivière JB; Laboratoire de Génétique Moléculaire, Plateau technique de Biologie - CHU Dijon, Dijon, France.
Laplanche JL; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.
Willing M; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Captier G; Chirurgie plastique infantile Montpellier, Montpellier, France.
Apparailly F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France. .
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Collet C; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.
Djouad F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.
Geneviève D; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 547-556. Date of Electronic Publication: 2019 Oct 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Autorzy :
Burkardt DD; Center for Human Genetics,University Hospitals Rainbow Babies and Children, Department of genetics, Case Western Reserve University, Cleveland, Ohio.
Zachariou A; Institute of Cancer Research, London, UK.
Loveday C; Institute of Cancer Research, London, UK.
Allen CL; Lowerbank Dental Practice, Leyland, UK.
Amor DJ; Department of Paediatrics, The Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia.
Ardissone A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Lombardia, Italy.
Banka S; Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Bourgois A; CHU Côte de Nacre, Service de Génétique, Caen, France.
Coubes C; Hôpital Arnaud de Villeneuve Montpellier, Montpellier, France.
Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Faivre L; Genetics Center, Hôpital d'Enfants, Dijon, France.
Marion G; Service de Génétique, Centre Hospitalier Universitaire de Caen Normandie, Caen, France.
Horton R; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Kotzot D; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
Lay-Son G; División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
Lees M; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Low K; Clinical Genetics, St Michaels Hospital, University Hospitals Bristol, Bristol, UK.
Luk HM; Department of Health, Clinical Genetic Service, Hong Kong, Hong Kong.
Mark P; Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan.
McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Genetics, Durham, North Carolina.
McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Genetics, Durham, North Carolina.
Pappas J; Human Genetics Program, University School of Medicine, New York, New York, USA.
Phillipe C; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, INSERM UMR1231 GAD, Dijon, France.
Shears D; Clinical Genetics, Churchill Hospital, Oxford, UK.
Skotko B; Division of Medical Genetics and Genomics, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Stewart F; Medical Genetics, Belfast City Hospital, Belfast, UK.
Stewart H; Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford, UK.
Temple IK; Faculty of Medicine, Wessex Clinical Genetics Service, University Hospital Southampton, University of Southampton, Southampton, UK.
Mau-Them FT; UF D'innovation en Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, FHU TRANSLAD, Dijon, France.
Verdugo RA; Programa de Genética Humans, ICBM, Santiago, Chile.
Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Zarate YA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, Arkansas.
Graham JM; Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.
Tatton-Brown K; Institute of Cancer Research, London, UK.; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; St George's University of London, London, UK.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Oct; Vol. 179 (10), pp. 2049-2055. Date of Electronic Publication: 2019 Aug 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: MEDLINE
MeSH Terms :
Facies*
Histones/*genetics
Intellectual Disability/*genetics
Mutation/*genetics
Behavior ; Growth and Development ; Heterozygote ; Humans ; Learning ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł :
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Autorzy :
Bruel AL; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France. .; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. .
Vitobello A; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Mau-Them FT; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Nambot S; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Duffourd Y; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Quéré V; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Kuentz P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.
Garret P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire CERBA, Saint-Ouen l'Aumône, Dijon, France.
Thevenon J; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Moutton S; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Lehalle D; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Jean-Marçais N; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Garde A; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.
Delanne J; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.
Lefebvre M; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Lecoquierre F; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Trost D; Laboratoire CERBA, Saint-Ouen l'Aumône, Dijon, France.
Cho M; GeneDx, Gaithersburg, MD, USA.
Begtrup A; GeneDx, Gaithersburg, MD, USA.
Telegrafi A; GeneDx, Gaithersburg, MD, USA.
Vabres P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de référence maladies rares « maladies dermatologiques en mosaïque », service de dermatologie, CHU Dijon Bourgogne, Dijon, France.
Mosca-Boidron AL; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Callier P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Philippe C; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Faivre L; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Thauvin-Robinet C; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
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Corporate Authors :
Orphanomix Physicians’ Group
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jul; Vol. 21 (7), pp. 1657-1661. Date of Electronic Publication: 2018 Dec 19.
Typ publikacji :
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :
Information Dissemination*
Software*
Whole Exome Sequencing*
Rare Diseases/*genetics
Genetic Testing ; Humans ; Rare Diseases/diagnosis
Czasopismo naukowe
Tytuł :
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Autorzy :
Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
Malintan NT; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
Llano-Rivas I; Department of Medical Genetics, Hospital Universitario Cruces, Greater Bilbao 48903, Spain.
Spaeth CG; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.
Efthymiou S; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.
Vandrovcova J; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
Cutrupi MC; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
Chimenz R; Division of Human Genetics, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
David E; Papardo University Hospital, Viale Ferdinando Stagno d'Alcontres, Contrada Papardo, Messina 98158, Italy.
Di Rosa G; Division of Child Neurology and Psychiatry, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
Marce-Grau A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
Raspall-Chaure M; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
Martin-Hernandez E; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Departamento de Pediatría, Hospital 12 de Octubre, Madrid 28041, Spain.
Zara F; Laboratory of Neurogenetics and Neuroscience, G. Gaslini Institute, Genova 16147, Italy.
Minetti C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.
Bello OD; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
De Zorzi R; Center of Excellence in Biocrystallography, Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.
Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste 34127, Italy.
Dauber A; Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.
Alkhawaja M; Prince Hamzah Hospital, Ministry of Health, Amman 11181, Jordan.
Sultan T; Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore 54600, Pakistan.
Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.
Thomas Q; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.
Mau-Them FT; Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.
Faivre L; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France; Center de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.
Martinez-Azorin F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid 28041, Spain.
Prada CE; Division of Human Genetics, Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229-3026, USA.
Macaya A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Barcelona 08035, Spain.
Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.
Rothman JE; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA.
Krishnakumar SS; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address: .
Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
Deciphering Developmental Disorders Study
SYNAPS Study Group
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 721-730. Date of Electronic Publication: 2019 Mar 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Intellectual Disability/*genetics
Muscle Hypotonia/*genetics
Neurodevelopmental Disorders/*genetics
Neurons/*metabolism
Synapses/*metabolism
Vesicle-Associated Membrane Protein 2/*genetics
Adolescent ; Autistic Disorder/genetics ; Autistic Disorder/metabolism ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Epilepsy/metabolism ; Exocytosis ; Female ; Heterozygote ; Humans ; Lipids/chemistry ; Magnetic Resonance Imaging ; Male ; Membrane Fusion ; Movement Disorders/genetics ; Mutation ; Neurodevelopmental Disorders/metabolism ; Neurotransmitter Agents/metabolism ; Phenotype ; Protein Domains ; R-SNARE Proteins/metabolism ; Vesicle-Associated Membrane Protein 2/physiology
Czasopismo naukowe
Tytuł :
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Autorzy :
van der Knaap MS; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France. .
Bugiani M; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Mendes MI; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Riley LG; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Smith DEC; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Rudinger-Thirion J; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Frugier M; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Breur M; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Crawford J; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
van Gaalen J; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Schouten M; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Willems M; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Waisfisz Q; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Mau-Them FT; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Rodenburg RJ; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Taft RJ; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Keren B; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Christodoulou J; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Depienne C; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Simons C; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Salomons GS; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
Mochel F; From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.
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Źródło :
Neurology [Neurology] 2019 Mar 12; Vol. 92 (11), pp. e1225-e1237. Date of Electronic Publication: 2019 Feb 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Amino Acyl-tRNA Synthetases/*genetics
Brain/*diagnostic imaging
Deafness/*genetics
Leukoencephalopathies/*genetics
Lysine-tRNA Ligase/*genetics
Ovarian Diseases/*genetics
Adult ; Biological Assay ; Brain/pathology ; Child ; Female ; Humans ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/pathology ; Leukoencephalopathies/physiopathology ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Male ; Middle Aged ; Mitochondria ; Ovarian Diseases/diagnostic imaging ; Ovarian Diseases/pathology ; Ovarian Diseases/physiopathology ; Transfer RNA Aminoacylation
SCR Disease Name :
Vanishing White Matter Leukodystrophy with Ovarian Failure
Czasopismo naukowe
Tytuł :
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Autorzy :
Imbert-Bouteille M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France.
Mau Them FT; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France; Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, France.
Thevenon J; Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, France; Centre de Génétique, Hôpital Couple-Enfant, CHU Grenoble-Alpes, La Tronche, France.
Guignard T; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France.
Gatinois V; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France.
Riviere JB; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie - CHU Dijon, Dijon, France.
Boland A; Centre National de Génotypage, Institut de Génomique, Commissariat à l'Energie Atomique, Evry, France.
Meyer V; Centre National de Génotypage, Institut de Génomique, Commissariat à l'Energie Atomique, Evry, France.
Deleuze JF; Centre National de Génotypage, Institut de Génomique, Commissariat à l'Energie Atomique, Evry, France.
Sanchez E; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France.
Apparailly F; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France.
Geneviève D; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France.
Willems M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 161-166. Date of Electronic Publication: 2018 Jul 10.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
MeSH Terms :
Phenotype*
Dwarfism/*genetics
Intellectual Disability/*genetics
Microcephaly/*genetics
Ribonucleoproteins/*genetics
Child ; Dwarfism/pathology ; Female ; Humans ; Intellectual Disability/pathology ; Loss of Function Mutation ; Microcephaly/pathology ; Siblings ; Syndrome
Czasopismo naukowe
Tytuł :
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Autorzy :
Olson HE
Jean-Marçais N
Yang E
Heron D
Tatton-Brown K
van der Zwaag PA
Bijlsma EK
Krock BL
Backer E
Kamsteeg EJ
Sinnema M
Reijnders MRF
Bearden D
Begtrup A
Telegrafi A
Lunsing RJ
Burglen L
Lesca G
Cho MT
Smith LA
Sheidley BR
El Achkar CM
Pearl PL
Poduri A
Skraban CM
Tarpinian J
Nesbitt AI
Fransen van de Putte DE
Ruivenkamp CAL
Rump P
Chatron N
Sabatier I
De Bellescize J
Guibaud L
Sweetser DA
Waxler JL
Wierenga KJ
Donadieu J
Narayanan V
Ramsey KM
Nava C
Rivière JB
Vitobello A
Mau-Them FT
Philippe C
Bruel AL
Duffourd Y
Thomas L
Lelieveld SH
Schuurs-Hoeijmakers J
Brunner HG
Keren B
Thevenon J
Faivre L
Thomas G
Thauvin-Robinet C
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Corporate Authors :
DDD Study
C4RCD Research Group
Źródło :
American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 631.
Typ publikacji :
Journal Article; Published Erratum
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: PubMed not MEDLINE
Czasopismo naukowe
Tytuł :
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Autorzy :
Hamdan FF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.
Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
Cossette P; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.
Lemay P; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.
Spiegelman D; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.
Laporte AD; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.
Nassif C; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.
Diallo O; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.
Monlong J; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
Cadieux-Dion M; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.
Dobrzeniecka S; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada.
Meloche C; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada.
Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.
Massicotte C; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.
Miguet M; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.
Brunga L; Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada.
Regan BM; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.
Mo K; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.
Tam C; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.
Schneider A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Hollingsworth G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Donaldson A; Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK.
Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.
Blair E; Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
Kerr B; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
Fry AE; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.
Thomas RH; MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK.
Shelagh J; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Brittain H; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Blyth M; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK.
Lebel RR; Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
Davis-Keppen L; University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA.
Stein Q; Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA.
Chung WK; Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
Dorison SJ; Baptist Hospital, Miami, FL 33176 USA.
Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.
Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Corsten-Janssen N; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
Kamsteeg EJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Mau-Them FT; Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France.
Bruel AL; Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France.
Verloes A; Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia.
Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Albert DVF; Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA.
Venkateswaran S; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Ware T; University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia.
Jones D; School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia.
Liu YC; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Mohammad SS; Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia.
Bizargity P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Leuzzi V; Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy.
Martinelli S; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
Dallapiccola B; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.
Blumkin L; Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel.
Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Purcarin G; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
O'Byrne JJ; University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Stockler S; University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France.
Nougues MC; Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France.
Mignot C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France.
Auvin S; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France.
Nava C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France.
Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.
Bebin M; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Frye RE; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA.
Jarjour IT; Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.
Jacques S; Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada.
Boucher RM; Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada.
Riou E; Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.
Srour M; Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada.
Carmant L; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Lortie A; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Major P; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Diadori P; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Dubeau F; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.
D'Anjou G; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Bourque G; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand.
Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Kibar Z; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.
Lafrenière RG; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada.
Girard SL; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada.
Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
Andrade DM; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.
Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.
Minassian BA; Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: .
Michaud JL; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: .
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Corporate Authors :
Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 664-685.
Typ publikacji :
Journal Article; Meta-Analysis
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Brain Diseases/*genetics
Epilepsy/*genetics
Mutation/*genetics
Child ; Child, Preschool ; Female ; Genome, Human/genetics ; Genome-Wide Association Study/methods ; Humans ; Intellectual Disability/genetics ; Male ; Recurrence ; Seizures/genetics
Czasopismo naukowe
Tytuł :
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Autorzy :
Ivanova EL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France.
Mau-Them FT; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France.
Riazuddin S; Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan.
Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 1985713834 Tehran, Iran.
Laugel V; Department of Pediatrics, Strasbourg University Hospital, 67000 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.
Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
de Saint Martin A; Department of Pediatrics, Strasbourg University Hospital, 67000 Strasbourg, France.
Runge K; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France.
Iqbal Z; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Oslo University Hospital, 0450 Oslo, Norway.
Spitz MA; Department of Pediatrics, Strasbourg University Hospital, 67000 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.
Laura M; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France.
Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France.
Gérard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France.
Deleuze JF; Centre National de Génotypage (CNG), 91000 Evry, France.
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Razzaq A; Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan.
Dollfus H; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Assir MZ; Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Allama Iqbal Medical College, University of Health Sciences, 54000 Lahore, Pakistan.
Nitchké P; Institut Imagine, Bioinformatics Platform, Université Paris Descartes, 75015 Paris, France.
Hinckelmann MV; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France.
Ropers H; Max-Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Riazuddin S; Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Allama Iqbal Medical College, University of Health Sciences, 54000 Lahore, Pakistan.
Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, 1985713834 Tehran, Iran.
van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Sep 07; Vol. 101 (3), pp. 428-440. Date of Electronic Publication: 2017 Aug 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Cerebellar Diseases/*genetics
Cerebellum/*abnormalities
GTPase-Activating Proteins/*genetics
Microcephaly/*genetics
Nervous System Malformations/*genetics
Neurons/*pathology
Adolescent ; Animals ; Cells, Cultured ; Cerebellar Diseases/pathology ; Cerebellum/pathology ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Embryo, Mammalian/metabolism ; Embryo, Mammalian/pathology ; Female ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Mice ; Microcephaly/pathology ; Nervous System Malformations/pathology ; Neuroblastoma/genetics ; Neuroblastoma/pathology ; Neuronal Outgrowth ; Neurons/metabolism ; Pedigree
SCR Disease Name :
Cerebellar Hypoplasia; Pontocerebellar Hypoplasia
Czasopismo naukowe
Tytuł :
Circulating Cell Free Tumor DNA Detection as a Routine Tool forLung Cancer Patient Management.
Autorzy :
Vendrell JA; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 34295 Montpellier, France. .
Mau-Them FT; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 34295 Montpellier, France. .
Béganton B; IRCM, Institut de Recherche en Cancérologie de Montpellier, 34298 Montpellier, France. .; INSERM, U1194, 34298 Montpellier, France. .; ICM, Institut Régional du Cancer de Montpellier, 34298 Montpellier, France. .; Université de Montpellier, 34000 Montpellier, France. .
Godreuil S; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Microbiology, 34295 Montpellier, France. .
Coopman P; IRCM, Institut de Recherche en Cancérologie de Montpellier, 34298 Montpellier, France. .; INSERM, U1194, 34298 Montpellier, France. .; ICM, Institut Régional du Cancer de Montpellier, 34298 Montpellier, France. .; Université de Montpellier, 34000 Montpellier, France. .
Solassol J; CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 34295 Montpellier, France. .; IRCM, Institut de Recherche en Cancérologie de Montpellier, 34298 Montpellier, France. .; INSERM, U1194, 34298 Montpellier, France. .; Université de Montpellier, 34000 Montpellier, France. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2017 Jan 29; Vol. 18 (2). Date of Electronic Publication: 2017 Jan 29.
Typ publikacji :
Journal Article; Review
Journal Info :
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
MeSH Terms :
Biomarkers, Tumor*
DNA, Neoplasm/*genetics
Lung Neoplasms/*diagnosis
Lung Neoplasms/*genetics
Neoplastic Cells, Circulating/*metabolism
Biopsy/methods ; Biopsy/standards ; DNA, Neoplasm/blood ; Diagnostic Tests, Routine/methods ; Diagnostic Tests, Routine/standards ; Disease Management ; Genomics/methods ; High-Throughput Nucleotide Sequencing ; Humans ; Lung Neoplasms/therapy ; Neoplastic Cells, Circulating/pathology ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/standards ; Precision Medicine/methods ; Precision Medicine/standards ; Prognosis ; Tumor Burden
Czasopismo naukowe
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