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Tytuł :
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Autorzy :
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
Bhambhani V; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.
Calhoun A; Division of Medical Genetics and Genomics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Fernández-Jaén A; Department of Neuropediatrics, Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.
Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
Jain M; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Mckenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
Mintz M; CNNH NeuroHealth and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA.
Motter C; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.
Niles K; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.
Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Rogers C; Division of Clinical Genetics, Greenwood Genetics Center, Greenville, South Carolina, USA.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.
Townshend S; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.
Ward-Melver C; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul 20. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Journal Article
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
Czasopismo naukowe
Tytuł :
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Autorzy :
Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Schultz MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bhoj E; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Renaud DL; Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota.
Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Zain Seidahmed M; Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Jun; Vol. 7 (6), pp. 1013-1028. Date of Electronic Publication: 2020 Jun 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Autorzy :
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.
Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.
Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.
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 :
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Autorzy :
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
Basel D; Department of Pediatrics, Division of Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.
Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.
Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 822.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Autorzy :
Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. .
Lazar HP; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Cohen L; Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Whalen S; UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France.
Heide S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France.
Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France.
Terhal P; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
Irving M; Department of Clinical Genetics, Guy's Hospital, London, UK.
Takaku M; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Roberts JD; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Petrovich RM; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA.
Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Hove H; Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
DeChene E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Quinonez SC; Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.
Colin E; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
Ziegler A; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
Rumple M; Banner Child Neurology, Glendale, AZ, USA.
Jain M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA.
Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.
Roeder ER; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.
Nugent K; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Gambello M; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.
Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
Ghoumid J; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.
Turnpenny P; University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK.
Clayton-Smith J; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
Metcalfe K; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan.
Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Baris Feldman H; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.
Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Wade PA; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 389-397. Date of Electronic Publication: 2019 Aug 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; 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: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Autorzy :
Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia.
Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.
Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy.
Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia.
Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina.
Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.
Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.
D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.
Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy.
Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.
Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.
Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey.
Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina.
Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.
Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.
Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California.
Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Lichty A; Greenwood Genetic Center, Greenwood, South Carolina.
Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.
Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.
Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.
Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.
Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.
Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota.
Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.
Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.
Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.
Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.
Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.
Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.
Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine.
Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.
Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.
Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.
Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas.
Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida.
Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.
Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York.
Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.
Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.
Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.
Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium.
Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.
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Źródło :
Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum. Mutat. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Autorzy :
Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.
Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.
Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.
Santoro SL; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
Ziegler A; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.
Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.
Kempers M; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Legius E; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France.
Schnelle HM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kersten S; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Dhamija R; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.
Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Ella Pierpont M; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
Khattar D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Martin RJ; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Chang VY; Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA.
Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Kuismin O; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
Kurki MI; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pietiläinen O; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA.
Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.
Johnson DS; Sheffield Children's Hospital, Sheffield, UK.
Venborg Pedersen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Laulund LW; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
Lynch SA; University College Dublin and Temple Street Children's Hospital, Dublin, Ireland.
Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
Ibitoye R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Van Esch H; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. .
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Corporate Authors :
DDD Study
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2723-2733. Date of Electronic Publication: 2019 Jun 26.
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 :
CCCTC-Binding Factor/*genetics
CCCTC-Binding Factor/*metabolism
Neurodevelopmental Disorders/*genetics
Animals ; Child ; Chromatin/genetics ; Chromatin/metabolism ; Developmental Disabilities/genetics ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Female ; Gene Expression Profiling/methods ; Gene Expression Regulation/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Mutation/genetics ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/metabolism ; Transcription Factors/genetics ; Whole Exome Sequencing/methods ; Young Adult
Czasopismo naukowe
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2160-2161.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Autorzy :
Liang L; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
Li X; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
Moutton S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Schrier Vergano SA; Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA 23507, USA.
Cogné B; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.
Saint-Martin A; Neuropédiatrie, Centre de Référence des Epilepsies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg 67098, France.
Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Hu Y; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.; The Broad Institute of Harvard and MIT, Boston, MA 02115, USA.
Thevenon J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Hung CY; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.
Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.
Gerard B; Institut de Génétique Médicale d'Alsace, Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg 67000, Franc.
Rega A; Pediatric Radiologist, Département de Radiologie et Imagerie Diagnostique et Thérapeutique, CHU, Dijon 21079, France.
Nambot S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Lehalle D; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Duffourd Y; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Bézieau S; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.
Dure LS; Department of Pediatrics and Neurology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Helbling DC; Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Bick D; Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Xu C; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.
Chen Q; Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA.
Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015, The Netherlands.
Vitobello A; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.
Wang QK; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA.; Department of Genetics and Genome Science, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2019 Sep 01; Vol. 28 (17), pp. 2937-2951.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Sanchis Calvo A; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.
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-Binding Proteins/*genetics
DNA-Binding Proteins/*metabolism
Transcription Factors/*genetics
Transcription Factors/*metabolism
Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone/genetics ; Exome ; Face/abnormalities ; Female ; Genetic Association Studies/methods ; Genetic Variation/genetics ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/genetics ; Male ; Micrognathism/genetics ; Middle Aged ; Mutation ; Neck/abnormalities ; Penetrance
SCR Disease Name :
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł :
Case 3: The Hypothermic Newborn.
Autorzy :
Erickson J; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.
Schrier Vergano SA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA.
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Źródło :
NeoReviews [Neoreviews] 2019 Feb; Vol. 20 (2), pp. e93-e95.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE
MeSH Terms :
Adenylosuccinate Lyase/*deficiency
Argininosuccinic Aciduria/*diagnosis
Hypothermia/*diagnosis
Argininosuccinic Aciduria/genetics ; Argininosuccinic Aciduria/therapy ; Citrulline/metabolism ; Humans ; Infant, Newborn ; Male ; Neonatal Screening
Czasopismo naukowe
Tytuł :
Schaaf-Yang syndrome overview: Report of 78 individuals.
Autorzy :
McCarthy J; Institute of Human Genetics, University Hospital Cologne, Köln, Germany.
Lupo PJ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Kovar E; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Rech M; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Scott D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
Kraft K; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Roscioli T; Department of Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
Charrow J; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Lose E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
Smiegel R; Department of Social Pediatrics, Wroclaw Medical University, Poland.
Lacassie Y; Department of Pediatrics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana.
Schaaf CP; Institute of Human Genetics, University Hospital Cologne, Köln, Germany.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Center for Molecular Medicine Cologne, University of Cologne, Köln, Germany.; Center for Rare Diseases, University Hospital Cologne, Köln, Germany.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2564-2574. Date of Electronic Publication: 2018 Oct 10.
Typ publikacji :
Journal Article
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 :
Neurodevelopmental Disorders/*diagnosis
Neurodevelopmental Disorders/*genetics
Proteins/*genetics
Adolescent ; Child ; Child, Preschool ; Codon, Nonsense ; Female ; Frameshift Mutation ; Genetic Association Studies ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Phenotype ; Syndrome ; Young Adult
Czasopismo naukowe
Tytuł :
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Autorzy :
Mannino EA; Doctor of Medicine Program, Eastern Virginia Medical School, Norfolk, Virginia.
Miyawaki H; Master of Public Health Program, Eastern Virginia Medical School, Old Dominion University, Norfolk, Virginia.
Santen G; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2250-2258. Date of Electronic Publication: 2018 Oct 01.
Typ publikacji :
Journal Article
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 :
Parents*
Registries*
Abnormalities, Multiple/*pathology
Abnormalities, Multiple/*therapy
Face/*abnormalities
Hand Deformities, Congenital/*pathology
Hand Deformities, Congenital/*therapy
Intellectual Disability/*pathology
Intellectual Disability/*therapy
Micrognathism/*pathology
Micrognathism/*therapy
Neck/*abnormalities
Abnormalities, Multiple/genetics ; Child, Preschool ; Cohort Studies ; Face/pathology ; Foot/pathology ; Genetic Association Studies ; Hand/pathology ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Micrognathism/genetics ; Neck/pathology
SCR Disease Name :
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł :
Congenital lumbar hernia-A feature of diabetic embryopathy?
Autorzy :
Stevens CA; Department of Pediatrics, Division of Medical Genetics, The University of Tennessee College of Medicine, Chattanooga, Tennessee.
Hogue JS; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.
Hopkin RJ; Department of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio.; Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Lombardo RC; Department of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio.; Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2243-2249. Date of Electronic Publication: 2018 Oct 01.
Typ publikacji :
Case Reports; Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
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 :
Diabetes, Gestational/*pathology
Fetal Diseases/*pathology
Hernia/*complications
Hernia/*congenital
Lumbar Vertebrae/*abnormalities
Adult ; Child, Preschool ; Female ; Fetal Diseases/diagnostic imaging ; Hernia/diagnostic imaging ; Humans ; Infant, Newborn ; Lumbar Vertebrae/diagnostic imaging ; Male ; Pregnancy
Czasopismo naukowe
Tytuł :
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Autorzy :
Wang J; Medical Scientist Training Program, Program in Developmental Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address: .
Kim E; Department of BioSciences, Rice University, 6100 Main Street, Houston, TX 77005, United States.
Dai H; Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.
Stefans V; UAMS College of Medicine, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR 72202, United States.
Vogel H; Pathology, Stanford University School of Medicine, R241 Edwards Building, 300 Pasteur Drive, Palo Alto, CA 94305, United States.
Al Jasmi F; Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, 601 Children's Lane, Norfolk, VA 23507, United States.
Castro D; Department of Pediatric, Neurology and Neurotherapeutics, Children's Health Dallas, University of Texas Southwestern, 2350 N Stemmons Freeway, Dallas, TX 75207, United States.
Bernes S; Department of Neurology, Phoenix Children's Hospital, Barrows Neurological Institute, 1919 East Thomas Road, Phoenix, AZ 85016, United States.
Bhambhani V; Genomics Medicine Program, Children's Hospital Minnesota, 2525 Chicago Ave S, Minneapolis, MN 55404, United States.
Long C; Genomics Medicine Program, Children's Hospital Minnesota, 2525 Chicago Ave S, Minneapolis, MN 55404, United States.
El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
Wong LJ; Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address: .
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2018 Jun; Vol. 124 (2), pp. 124-130. Date of Electronic Publication: 2018 Apr 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol. Genet. Metab. Subsets: MEDLINE
MeSH Terms :
Mutation*
DNA, Mitochondrial/*genetics
Mitochondria/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Diseases/*pathology
Muscular Diseases/*genetics
Muscular Diseases/*pathology
Thymidine Kinase/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Prognosis ; Young Adult
SCR Disease Name :
Mitochondrial DNA Depletion Syndrome, Myopathic Form
Czasopismo naukowe
Tytuł :
Congenital methemoglobinemia type II in a 5-year-old boy.
Autorzy :
Mannino EA; Eastern Virginia Medical School Norfolk Virginia.
Pluim T; Division of Pediatric Critical Care Medicine Naval Medical Center Portsmouth Portsmouth Virginia.
Wessler J; Division of Pediatric Hematology/Oncology Naval Medical Center Portsmouth Portsmouth Virginia.
Cho MT; GeneDx Gaithersburg Maryland.
Juusola J; GeneDx Gaithersburg Maryland.
Schrier Vergano SA; Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia.; Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia.
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Źródło :
Clinical case reports [Clin Case Rep] 2017 Dec 07; Vol. 6 (1), pp. 170-178. Date of Electronic Publication: 2017 Dec 07 (Print Publication: 2018).
Typ publikacji :
Case Reports
Journal Info :
Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE
Raport
Tytuł :
Molecular and clinical spectra of FBXL4 deficiency.
Autorzy :
El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Wang J; Medical Scientist Training Program and Program in Developmental Biology, Baylor College of Medicine, Houston, Texas.
Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Al Asmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Saleh MAM; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Elamin MAO; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Aldosary MS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almutairi FB; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Al-Sharfa S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Al-Muhaizea MA; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Makhseed N; Department of Pediatrics, Al-Jahra Hospital, Ministry of Health, Al-Jahra City, Kuwait.
Foskett GK; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Stevenson DA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Gomez-Ospina N; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Lee C; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Boles RG; Lineagen, Salt Lake City, Utah.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Sperl W; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.
Opladen T; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany.
Hoffmann GF; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany.
Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
Chan W; Department of Biostatistics, School of Public Health, University of Texas-Health Science Center at Houston, Houston, Texas.
Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Wong LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
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Źródło :
Human mutation [Hum Mutat] 2017 Dec; Vol. 38 (12), pp. 1649-1659. Date of Electronic Publication: 2017 Oct 06.
Typ publikacji :
Journal Article; Review; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum. Mutat. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
DNA, Mitochondrial/*genetics
F-Box Proteins/*genetics
Mitochondrial Encephalomyopathies/*genetics
Ubiquitin-Protein Ligases/*genetics
Acidosis, Lactic/genetics ; Cardiomyopathy, Hypertrophic/genetics ; Genetic Predisposition to Disease ; Humans ; Kaplan-Meier Estimate ; Mitochondria/genetics ; Mitochondrial Encephalomyopathies/epidemiology ; Mitochondrial Encephalomyopathies/pathology ; Mitochondrial Proteins/genetics ; Muscle Hypotonia/genetics ; Mutation ; Oxidative Phosphorylation ; Proteome/genetics
Czasopismo naukowe
Tytuł :
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Autorzy :
Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine and Riley Hospital for Children at IU Health, Indianapolis, Indiana.
Powis Z; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, California.
Prada CE; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Centro de Medicina Genomica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia.
Casasbuenas-Alarcon OL; Servicio de Neurología Pediatrica, Clinica Reina Sofía, Bogota, Colombia.
Balmakund T; Division of Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Schaefer GB; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Kahler SG; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Kaylor J; Arkansas Children's Hospital, Little Rock, Arkansas.
Winter S; Valley Children's Hospital, Department of Genetic Medicine and Metabolism, Madera, California.
Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Oct; Vol. 173 (10), pp. 2814-2820. Date of Electronic Publication: 2017 Aug 17.
Typ publikacji :
Case Reports; Journal Article
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*
Guanine Nucleotide Exchange Factors/*genetics
Intellectual Disability/*diagnosis
Adolescent ; Adult ; Child ; Female ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Prognosis ; Syndrome ; Young Adult
Czasopismo naukowe
Tytuł :
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.
Autorzy :
Reittinger AM; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
Helm BM; Department of Medical & Molecular Genetics, Indiana University School of Medicine and Riley Hospital for Children at IU Health, Indianapolis, Indiana.
Boles DJ; Quest Diagnostics, Nichols Institute, Chantilly, Virginia.
Gadi IK; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Schrier Vergano SA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Sep; Vol. 173 (9), pp. 2528-2533. Date of Electronic Publication: 2017 Jun 27.
Typ publikacji :
Case Reports; Journal Article
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 :
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Cri-du-Chat Syndrome/*diagnosis
Trisomy/*diagnosis
Uniparental Disomy/*genetics
Abnormalities, Multiple/physiopathology ; Chromosomes, Human, Pair 5/genetics ; Cri-du-Chat Syndrome/genetics ; Cri-du-Chat Syndrome/physiopathology ; Humans ; Infant ; Male ; Microarray Analysis ; Mosaicism ; Prenatal Diagnosis ; Trisomy/genetics ; Trisomy/physiopathology ; Uniparental Disomy/diagnosis ; Uniparental Disomy/physiopathology
SCR Disease Name :
Chromosome 5, uniparental disomy
Czasopismo naukowe
Tytuł :
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Autorzy :
Long A; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
Sinkovskaya ES; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
Edmondson AC; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai E; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3333-3337. Date of Electronic Publication: 2016 Aug 29.
Typ publikacji :
Case Reports; Journal Article
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 :
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Ascites/*etiology
Face/*abnormalities
Hematologic Diseases/*diagnosis
Hematologic Diseases/*genetics
Hydrops Fetalis/*etiology
Vestibular Diseases/*diagnosis
Vestibular Diseases/*genetics
Adult ; Alleles ; Ascites/diagnosis ; Chromosome Banding ; DNA-Binding Proteins/genetics ; Facies ; Female ; Hematologic Diseases/complications ; Humans ; Hydrops Fetalis/diagnosis ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Mutation ; Neoplasm Proteins/genetics ; Phenotype ; Physical Examination ; Pregnancy ; Prenatal Diagnosis ; Quantitative Trait Loci ; Vestibular Diseases/complications
SCR Disease Name :
Kabuki syndrome
Czasopismo naukowe

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