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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Granadillo, Jorge Luis; P A Stegmann, Alexander; Guo, Hui; Xia, Kun; Angle, Brad; Bontempo, Kelly; Ranells, Judith D; Newkirk, Patricia; Costin, Carrie; Viront, Joleen; Stumpel, Constanze T; Sinnema, Margje; Panis, Bianca; Pfundt, Rolph; Krapels, Ingrid P C; Klaassens, Merel; Nicolai, Joost; Li, Jinliang; Jiang, Yuwu; Marco, Elysa; Canton, Ana; Latronico, Ana Claudia; Montenegro, Luciana; Leheup, Bruno; Bonnet, Celine; M Amudhavalli, Shivarajan; Lawson, Caitlin E; McWalter, Kirsty; Telegrafi, Aida; Pearson, Richard; Kvarnung, Malin; Wang, Xia; Bi, Weimin; Rosenfeld, Jill Anne; Shinawi, Marwan.
Afiliação
  • Granadillo JL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine in Saint Louis, Saint Louis, Missouri, USA.
  • P A Stegmann A; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Angle B; Advocate Lutheran General Hospital, Park Ridge, Illinois, USA.
  • Bontempo K; Advocate Lutheran General Hospital, Park Ridge, Illinois, USA.
  • Ranells JD; Department of Pediatrics, University of South Florida, Tampa, Florida, USA.
  • Newkirk P; Department of Pediatrics, University of South Florida, Tampa, Florida, USA.
  • Costin C; Akron Children's Hospital, Akron, Ohio, USA.
  • Viront J; Akron Children's Hospital, Akron, Ohio, USA.
  • Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • Sinnema M; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
  • Panis B; Zuyderland Medical Centre Heerlen, Heerlen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmgen, The Netherlands.
  • Krapels IPC; Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands.
  • Klaassens M; Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, Netherlands.
  • Li J; Peking University First Hospital, Beijing, Beijing, China.
  • Jiang Y; Peking University First Hospital, Beijing, Beijing, China.
  • Marco E; UCSF Pediatric Brain Center, UCSF, San Francisco, California, USA.
  • Canton A; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Latronico AC; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Montenegro L; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Leheup B; Service de Génétique clinique, Höpital Brabois, Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine, France.
  • Bonnet C; Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine, France.
  • M Amudhavalli S; Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Lawson CE; Children's Mercy Hospital, Kansas City, Missouri, USA.
  • McWalter K; GeneDx, Gaithersburg, Maryland, USA.
  • Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.
  • Pearson R; GeneDx, Gaithersburg, Maryland, USA.
  • Kvarnung M; Department of Clinical Genetics & Department of Molecular Medicine and Surgery, Karolinska University Hospital & Karolinska Institute, Stockholm, Sweden.
  • Wang X; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Bi W; Baylor College of Medicine Department of Molecular and Human Genetics, Houston, Texas, USA.
  • Rosenfeld JA; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Shinawi M; Baylor College of Medicine Department of Molecular and Human Genetics, Houston, Texas, USA.
J Med Genet ; 57(10): 717-724, 2020 10.
Article em En | MEDLINE | ID: mdl-32152250
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Transtorno Autístico / Proteínas de Ligação a RNA / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Transtorno Autístico / Proteínas de Ligação a RNA / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article