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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal, Aman Singh; Kühl, Susanne J; Kini, Usha; McNeill, Alisdair.
Afiliação
  • Hempel A; Institute for Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
  • Pagnamenta AT; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Blyth M; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
  • Mansour S; Department of Clinical Genetics, St George's Hospital, London, UK.
  • McConnell V; Department of Genetic Medicine, Floor A, Belfast City Hospital, Belfast, UK.
  • Kou I; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
  • Ikegawa S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Lo-Castro A; Department of Neuroscience, Pediatric Neurology Unit, Tor Vergata University of Rome, Rome, Italy.
  • Plessis G; Service de génétique, CHU de Caen-Hôpital de la Côte de Nacre, Caen, France.
  • Albrecht B; Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen, Essen, Germany.
  • Battaglia A; The Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Pisa, Italy.
  • Taylor JC; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Howard MF; National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Keays D; Institute of Molecular Pathology, Vienna, Austria.
  • Sohal AS; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.
  • Kühl SJ; Institute for Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
  • Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
  • McNeill A; INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
J Med Genet ; 53(3): 152-62, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26543203
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Deleção de Sequência / Face / Fatores de Transcrição SOXC / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Deleção de Sequência / Face / Fatores de Transcrição SOXC / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha