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Wyświetlanie 1-7 z 7
Tytuł :
Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Autorzy :
Salzano, E
Raible, SE
Kaur, M
Wilkens, A
Sperti, G
Tilton, RK
Bettini, LR
Rocca, A
Cocchi, G
Selicorni, A
Conlin, LK
McEldrew, D
Gupta, R
Thakur, S
Izumi, K
Krantz, ID
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Źródło :
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2575-2586, 12p
Czasopismo naukowe
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 :
A Centralized Approach for Practicing Genomic Medicine.
Autorzy :
Biswas S; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Contributed equally as co-first authors.
Medne L; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Contributed equally as co-first authors.
Devkota B; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bedoukian E; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Berrodin D; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Izumi K; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
Deardorff MA; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
Tarpinian J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Leonard J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Pyle L; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
Gray C; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Montgomery J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Williams T; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Fortunato S; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Weatherly J; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
McEldrew D; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Kaur M; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Raible SE; Roberts Individualized Medical Genetics Center, Division of Human Genetics.
Wilkens A; Informed DNA, St. Petersburg, Florida.
Spinner NB; Division of Genomic Diagnostics, and.; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and.
Skraban C; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Departments of Pediatrics and.
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Źródło :
Pediatrics [Pediatrics] 2020 Mar; Vol. 145 (3). Date of Electronic Publication: 2020 Feb 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Genetic Testing*
Pediatrics*
Delivery of Health Care/*organization & administration
Child ; Genomics ; Humans
Czasopismo naukowe
Tytuł :
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Autorzy :
Fountain MD; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Oleson DS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Rech ME; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Segebrecht L; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Hunter JV; Department of Radiology, Texas Children's Hospital, Houston, TX, USA.
McCarthy JM; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lupo PJ; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Holtgrewe M; Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.
Moran R; Department of Genetics, Cleveland Clinic Children's, Cleveland, OH, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Isidor B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Le Caignec C; CHU Nantes, Service de Génétique Médicale, Nantes, France.
Saenz MS; Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
Pedersen RC; Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI, USA.
Morgan TM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
Pfotenhauer JP; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kang SL; Department of Pathology & Laboratory Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Patel A; Baylor Genetics, Houston, TX, USA.
Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Smith W; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA.
Cristian I; Division of Genetics, Department of Pediatrics, Arnold Palmer Hospital, Orlando, FL, USA.
Torti E; GeneDx, Gaithersburg, MD, USA.
Juusola J; GeneDx, Gaithersburg, MD, USA.
Millan F; GeneDx, Gaithersburg, MD, USA.
Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
Person RE; GeneDx, Gaithersburg, MD, USA.
Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Bézieau S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Uguen K; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France.
Férec C; Service de Génétique Médicale, CHRU de Brest, INSERM, Brest, France.
Munnich A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.
van Haelst M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hagelstrom T; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
Chawla A; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
Perry DL; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
Taft RJ; Illumina Clinical Services Laboratory, Illumina, San Diego, CA, USA.
Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA.
Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA.
Dyment D; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Venkateswaran S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Li C; McMaster University Medical Center, Hamilton, ON, Canada.
Escobar LF; Medical Genetics and Neurodevelopment Center, St Vincent Children's Hospital, Indianapolis, IN, USA.
Horn D; Charité-Universtitätsmedizin Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany.
Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
Peña L; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Wierzba J; Department of General Nursery, Medical University of Gdańsk, Gdańsk, Poland.
Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Parenti I; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Kaiser FJ; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Ehmke N; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Schaaf CP; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. .; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. .; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. .; Center for Rare Diseases, University Hospital Cologne, Cologne, Germany. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1797-1807. Date of Electronic Publication: 2019 Jan 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; 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 :
Problem Behavior*
Intellectual Disability/*genetics
Language Development Disorders/*genetics
Neurodevelopmental Disorders/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Child ; Child, Preschool ; Chromosome Deletion ; DNA-Binding Proteins/genetics ; Genome, Human/genetics ; Haploinsufficiency/genetics ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/physiopathology ; Language Development Disorders/physiopathology ; Neurodevelopmental Disorders/physiopathology ; Nuclear Proteins/genetics ; Phenotype ; Proteins/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Clinical and molecular spectrum of CHOPS syndrome.
Autorzy :
Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Mehta D; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bettale C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Fiordaliso S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kaur M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Haan E; Australia and Faculty of Health and Medical Sciences, Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, South Australia, Australia.
White SM; Department of Paediatrics, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
Cusmano-Ozog K; Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Guo Y; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Wu H; Department of Pediatrics, The 307 Hospital, Beijing, China.
Shi X; Department of Pediatrics, The 307 Hospital, Beijing, China.
Zhao Q; Department of Pediatrics, The 307 Hospital, Beijing, China.
Zhang X; Department of Pediatrics, The 307 Hospital, Beijing, China.
Lei Q; Department of Pediatrics, The 307 Hospital, Beijing, China.
Lu A; Department of Pediatrics, The 307 Hospital, Beijing, China.
He X; Department of Pediatrics, The 307 Hospital, Beijing, China.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Piccione J; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Allen J; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Matsumoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Pipan M; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Developmental Behavioral Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Izumi K; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1126-1138. Date of Electronic Publication: 2019 May 06.
Typ publikacji :
Case Reports; 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 :
Mutation, Missense*
Craniofacial Abnormalities/*genetics
Dwarfism/*genetics
Ear/*abnormalities
Heart Defects, Congenital/*genetics
Intellectual Disability/*genetics
Lung Diseases/*genetics
Neck/*abnormalities
Obesity/*genetics
Thorax/*abnormalities
Transcriptional Elongation Factors/*genetics
Adolescent ; Amino Acid Sequence ; Child ; Child, Preschool ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/pathology ; DNA Mutational Analysis ; De Lange Syndrome ; Diagnosis, Differential ; Dwarfism/diagnosis ; Dwarfism/pathology ; Ear/pathology ; Facies ; Female ; Gene Expression ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/pathology ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Lung Diseases/diagnosis ; Lung Diseases/pathology ; Male ; Neck/pathology ; Obesity/diagnosis ; Obesity/pathology ; Phenotype ; Syndrome ; Thorax/pathology ; Young Adult
SCR Disease Name :
Short Stature And Facioauriculothoracic Malformations
Czasopismo naukowe
Tytuł :
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Autorzy :
Sheppard S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Biswas S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Li MH; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA.
Jayaraman V; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Slack I; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Romasko EJ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sasson A; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Brunton J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sarmady M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Abrudan JL; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jairam S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ying X; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Choi J; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Scarano MI; Division of Genetics, Cooper University Health Care, Camden, NY, USA.
Santani A; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pennington JW; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Devkota B; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dulik MC; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Spinner NB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Krantz ID; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1663-1676. Date of Electronic Publication: 2018 Jun 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
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 :
High-Throughput Nucleotide Sequencing*
Pathology, Molecular*
Whole Exome Sequencing*
Hearing Loss/*genetics
Child, Preschool ; Exome/genetics ; Female ; Hearing Loss/diagnosis ; Hearing Loss/pathology ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Autorzy :
Salzano E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Raible SE; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kaur M; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Wilkens A; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sperti G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Tilton RK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bettini LR; Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, Milan, Italy.
Rocca A; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Cocchi G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Selicorni A; UOC Pediatria, ASST Lariana, Como, Italy.
Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
McEldrew D; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Gupta R; Department of Fetal Medicine, Maharaja Agrasen Hospital, Delhi & Sonepat Genetic and Fetal Medicine Centre, Sonepat, Haryana.
Thakur S; Department of Genetic & Fetal Medicine, Fortis Hospital, Delhi-NCR & Apollo Hospital, Delhi, India.
Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Krantz ID; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2575-2586. Date of Electronic Publication: 2018 Oct 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
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 :
Prenatal Diagnosis*/methods
Chromosome Disorders/*diagnosis
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 12/genetics ; Female ; Gestational Age ; Humans ; Phenotype ; Pregnancy ; Retrospective Studies ; Ultrasonography, Prenatal
SCR Disease Name :
Pallister Killian syndrome
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

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