Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Geuer S"" wg kryterium: Autor


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.
Pokaż więcej
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 :
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.
Autorzy :
Liedtke D; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany. .
Orth M; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
Meissler M; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
Geuer S; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Knaup S; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
Köblitz I; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.; Department of Cell and Developmental Biology, Julius-Maximilians-University, Würzburg, Germany.
Klopocki E; Institute of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2019 Sep 16; Vol. 9 (1), pp. 13383. Date of Electronic Publication: 2019 Sep 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Autorzy :
Coman D; Department of Metabolic Medicine, Lady Cilento Children's Hospital, Brisbane, QLD 4101, Australia; Department of Paediatrics, Wesley Hospital, Brisbane, QLD 4066, Australia; School of Medicine, University of Queensland, Brisbane, QLD 4067, Australia; School of Medicine, Griffith University, Gold Coast, QLD 4222, Australia. Electronic address: .
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
Riley LG; Genetic Metabolic Disorders Research Group, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
Kwint MP; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
Hauck R; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
Koster J; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 105 AZ Amsterdam, the Netherlands.
Geuer S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
Hopkins S; Division of Neurology, Children's Hospital, Philadelphia, PA 19104, USA.
Hallinan B; Division of Neurology, Cincinnati Children's Medical Centre, Cincinnati, OH 45229, USA.
Sweetman L; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Baylor University Medical Center, Dallas, TX 75204, USA.
Engelke UFH; Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
Burrow TA; University of Arkansas for Medical Sciences College of Medicine, Department of Pediatrics Little Rock, Arkansas, AR 72205, USA.
Cardinal J; Department of Paediatrics, Wesley Hospital, Brisbane, QLD 4066, Australia.
McGill J; Department of Metabolic Medicine, Lady Cilento Children's Hospital, Brisbane, QLD 4101, Australia; Department of Chemical Pathology, Pathology Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4006, Australia; School of Medicine, University of Queensland, Brisbane, QLD 4067, Australia.
Inwood A; Department of Metabolic Medicine, Lady Cilento Children's Hospital, Brisbane, QLD 4101, Australia.
Gurnsey C; Department of Chemical Pathology, Pathology Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4006, Australia.
Waterham HR; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 105 AZ Amsterdam, the Netherlands.
Christodoulou J; Genetic Metabolic Disorders Research Group, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne VIC 3052, Australia; Genetic Metabolic Disorders Research Group, Sydney Children's Hospital Network, Sydney NSW 2145, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Wevers RA; Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2018 Jul 05; Vol. 103 (1), pp. 125-130. Date of Electronic Publication: 2018 Jun 14.
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 :
Cholesterol/*genetics
Farnesyl-Diphosphate Farnesyltransferase/*genetics
Musculoskeletal Abnormalities/*genetics
Child ; Child, Preschool ; Enhancer Elements, Genetic/genetics ; Female ; Humans ; Infant ; Male ; Promoter Regions, Genetic/genetics ; RNA Splicing/genetics ; Smith-Lemli-Opitz Syndrome/genetics ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
Noncoding copy-number variations are associated with congenital limb malformation.
Autorzy :
Flöttmann R; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Kragesteen BK; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Geuer S; Max Planck Institute for Molecular Genetics, Berlin, Germany.
Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Allou L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
Sowińska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Bosquillon de Jarcy L; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Wagner J; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Wittler L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
de Silva D; Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.
Kurth I; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.; Institute of Human Genetics, RWTH Aachen, Aachen, Germany.
Maya I; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
Santos-Simarro F; Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; U753 Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
Hülsemann W; Handchirurgie Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
Klopocki E; Institute of Human Genetics, Biocentre, University of Würzburg, Würzburg, Germany.
Mountford R; Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women's National Health Service Foundation Trust, Liverpool, UK.
Fryer A; Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women's National Health Service Foundation Trust, Liverpool, UK.
Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Lapunzina P; Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, New South Wales, Australia.
Mascrez B; Department of Genetics and Evolution, University of Geneva, Geneva, Switzerland.
Duboule D; Department of Genetics and Evolution, University of Geneva, Geneva, Switzerland.; School of Life Sciences, Federal Institute of Technology, Lausanne, Switzerland.
Mundlos S; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Spielmann M; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Department of Genome Sciences, University of Washington, Seattle, USA.
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jun; Vol. 20 (6), pp. 599-607. Date of Electronic Publication: 2017 Oct 12.
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: MEDLINE
MeSH Terms :
DNA, Intergenic/*genetics
Limb Deformities, Congenital/*genetics
Animals ; DNA Copy Number Variations/genetics ; Female ; Gene Dosage/genetics ; Genome, Human ; Genome-Wide Association Study ; Humans ; Male ; Mice ; Mice, Transgenic ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Autorzy :
Willemsen MA; Department of Neurology (Paediatric Neurology), Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LE; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Verbeek MM; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
van Bon BW; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Geuer S; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Klepper J; Children's Hospital Aschaffenburg Alzenau, Aschaffenburg, Germany.
Kwint MP; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Leen WG; Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
Pennings M; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Veltman JA; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Kamsteeg EJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Jun; Vol. 25 (6), pp. 771-774. Date of Electronic Publication: 2017 Apr 05.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Carbohydrate Metabolism, Inborn Errors/*genetics
Codon, Initiator/*genetics
Glucose Transporter Type 1/*genetics
Monosaccharide Transport Proteins/*deficiency
5' Untranslated Regions ; Adolescent ; Carbohydrate Metabolism, Inborn Errors/diagnosis ; Cells, Cultured ; Female ; Glucose Transporter Type 1/metabolism ; Humans ; Monosaccharide Transport Proteins/genetics ; Mutation ; Peptide Chain Initiation, Translational
SCR Disease Name :
Glut1 Deficiency Syndrome
Czasopismo naukowe
Tytuł :
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Autorzy :
Jansen S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Geuer S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Brough R; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Ghongane P; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
Marco EJ; Departments of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, 675 Nelson Rising Lane, Suite 405, San Francisco, CA 94143, USA.
Willemsen MH; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Hannibal M; Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, D5257 Medical Professional Building, 1500 East Medical Center Drive, Ann Arbor, MI 48109-5718, USA.
Shieh JT; Division of Medical Genetics, Department of Pediatrics, UCSF Benioff Children's Hospital, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143-0793, USA.
Lynch SA; Clinical Genetics, Children's University Hospital, Temple Street, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, Dublin 1, Ireland.
Flinter F; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, Great Maze Pond, London SE1 9RT, UK.
FitzPatrick DR; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU, UK.
Gardham A; North West Thames Regional Genetic Service (Kennedy Galton Centre), North West London Hospitals, Watford Road, London HA1 3UJ, UK.
Bernhard B; North West Thames Regional Genetic Service (Kennedy Galton Centre), North West London Hospitals, Watford Road, London HA1 3UJ, UK.
Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Gipsy Lane, Oxford OX3 0BP, UK; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK.
Bernier R; Center on Human Development and Disability, University of Washington, PO Box 357920, Seattle, WA 98195-7920, USA.
Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital Solna, Karolinska Institutet, 171 77 Stockholm, Sweden.
Magnusson EA; Department of Medicine and Neurology, Habilitation Organization, Region Skåne, 291 89 Kristianstad, Sweden.
Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
de Vries P; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER Maastricht, the Netherlands.
Lord CJ; Cancer Research UK Gene Function Laboratory and Breast Cancer Now Research Centre, Institute of Cancer Research, London SW3 6JB, UK.
Vissers LE; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: .
Pokaż więcej
Corporate Authors :
Deciphering Developmental Disorders Study
Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Apr 06; Vol. 100 (4), pp. 650-658. Date of Electronic Publication: 2017 Mar 23.
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 :
Exons*
Mutation*
Intellectual Disability/*genetics
Protein Phosphatase 2C/*genetics
Adolescent ; Cell Cycle ; Child ; Child, Preschool ; Humans ; Intellectual Disability/pathology ; Young Adult
Czasopismo naukowe
Tytuł :
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.
Autorzy :
Kraft K; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Geuer S; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Will AJ; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Chan WL; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Paliou C; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Borschiwer M; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Harabula I; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Wittler L; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Franke M; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Ibrahim DM; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Kragesteen BK; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Spielmann M; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Mundlos S; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Lupiáñez DG; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address: .
Andrey G; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address: .
Pokaż więcej
Źródło :
Cell reports [Cell Rep] 2015 Feb 10; Vol. 10 (5), pp. 833-839. Date of Electronic Publication: 2015 Feb 07.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: PubMed not MEDLINE
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies