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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs-Hoeijmakers, Janneke; Boon, Elles M J; van Hagen, Johanna M; Zwijnenburg, Petra; Weiss, Marjan M; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G; Kotzot, Dieter; Mayr, Johannes A; Ben-Omran, Tawfeg; Mahmoud, Laila; Pais, Lynn S; Walsh, Christopher A; Shashi, Vandana; Sullivan, Jennifer A; Stong, Nicholas; Lecoquierre, Francois; Guerrot, Anne-Marie; Charollais, Aude; Rodan, Lance H.
Afiliação
  • Dias C; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Pfundt R; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kleefstra T; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands.
  • Shuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Boon EMJ; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands.
  • van Hagen JM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Zwijnenburg P; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Weiss MM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  • Keren B; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  • Mignot C; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  • Isapof A; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Weiss K; Département de Génétique, hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Hershkovitz T; Département de Génétique, hôpital Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France.
  • Iascone M; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP, Sorbonne Université, Paris, France.
  • Maitz S; Genetics Institute, Rambam Health Care Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Feichtinger RG; Genetics Institute, Rambam Health Care Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Kotzot D; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Mayr JA; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
  • Ben-Omran T; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Mahmoud L; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Pais LS; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.
  • Walsh CA; Department of Pediatrics, Sidra Medicine, Department of Medical Genetics, Hamad Medical Corporation, Weill Cornell Medical College, Doha, Qatar.
  • Shashi V; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, USA.
  • Sullivan JA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.
  • Stong N; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Lecoquierre F; Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Guerrot AM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Charollais A; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Rodan LH; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Am J Med Genet A ; 185(8): 2384-2390, 2021 08.
Article em En | MEDLINE | ID: mdl-34003604
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína 2 Semelhante ao Fator 7 de Transcrição / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína 2 Semelhante ao Fator 7 de Transcrição / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos