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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian Hy; Chan, Marcus Cy; Fung, Jasmine Lf; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P; Byrne, Alicia B; Scott, Hamish S; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S; Yeung, Alison; Tan, Tiong Y; Taylor, Jenny C; Christodoulou, John; White, Susan M.
Afiliación
  • Tan NB; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia.
  • Pagnamenta AT; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
  • Ferla MP; Department of Paediatrics, The University of Melbourne, Parkville 3052, Victoria, Australia.
  • Gadian J; NIHR Oxford BRC, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Chung BH; NIHR Oxford BRC, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Chan MC; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.
  • Fung JL; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.
  • Cook E; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.
  • Guter S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.
  • Boschann F; Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago 60608, Illinois, USA.
  • Heinen A; Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago 60608, Illinois, USA.
  • Schallner J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Mignot C; Carl Gustav Carus Faculty of Medicine, Children's Hospital, Technical University Dresden, Dresden, Germany.
  • Keren B; Department of Neuropediatrics, Carl Gustav Carus Faculty of Medicine, Children's Hospital, Technical University Dresden, Dresden, Germany.
  • Whalen S; Département de Génétique, Hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Sarret C; Département de Génétique, Hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Mittag D; UF de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
  • Demmer L; Service de génétique médicale, Hôpital Estaing, Centre hospitalo-universitaire de Clermont-Ferrand, 63003 Clermont-Ferrand, France.
  • Stapleton R; Division of Genetics, Levine Children's Hospital, Carolinas Medical Center, Atrium Health, Charlotte 28232-2861, North Carolina, USA.
  • Saida K; Division of Genetics, Levine Children's Hospital, Carolinas Medical Center, Atrium Health, Charlotte 28232-2861, North Carolina, USA.
  • Matsumoto N; Genetic Health Service NZ, Christchurch Hospital, Christchurch 8140, New Zealand.
  • Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Sheffer R; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Mor-Shaked H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Barnett CP; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
  • Byrne AB; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
  • Scott HS; South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide 5006, South Australia, Australia.
  • Kraus A; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide, South Australia, Australia.
  • Cappuccio G; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Brunetti-Pierri N; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, Adelaide, South Australia, Australia.
  • Iorio R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds 0113 392 4455, UK.
  • Di Dato F; Castle Hill Hospital, Cottingham, Hull 01482 622470, UK.
  • Pais LS; Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy.
  • Yeung A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Tan TY; Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy.
  • Taylor JC; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Christodoulou J; Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy.
  • White SM; Department of Translational Medicine, Section of Pediatrics, Federico II University Hospital, Naples, Italy.
J Med Genet ; 59(5): 511-516, 2022 05.
Article en En | MEDLINE | ID: mdl-34183358
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido