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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders, M R F; Kousi, M; van Woerden, G M; Klein, M; Bralten, J; Mancini, G M S; van Essen, T; Proietti-Onori, M; Smeets, E E J; van Gastel, M; Stegmann, A P A; Stevens, S J C; Lelieveld, S H; Gilissen, C; Pfundt, R; Tan, P L; Kleefstra, T; Franke, B; Elgersma, Y; Katsanis, N; Brunner, H G.
Afiliação
  • Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Kousi M; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA.
  • van Woerden GM; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.
  • Klein M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Bralten J; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, 3000 CA, Rotterdam, The Netherlands.
  • van Essen T; Department of Genetics, University of Groningen, University Medical Center of Groningen, 9700 RB, Groningen, The Netherlands.
  • Proietti-Onori M; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.
  • Smeets EEJ; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • van Gastel M; Department of Medical Care, SWZ zorg, 5691 AG, Son, The Netherlands.
  • Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • Stevens SJC; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.
  • Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 GA, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Tan PL; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Franke B; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.
  • Elgersma Y; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GA, Nijmegen, The Netherlands.
  • Katsanis N; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.
  • Brunner HG; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA.
Nat Commun ; 8(1): 1052, 2017 10 20.
Article em En | MEDLINE | ID: mdl-29051493
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Megalencefalia / Serina-Treonina Quinases TOR / Proteína Enriquecida em Homólogo de Ras do Encéfalo / Deficiência Intelectual / Mutação Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Megalencefalia / Serina-Treonina Quinases TOR / Proteína Enriquecida em Homólogo de Ras do Encéfalo / Deficiência Intelectual / Mutação Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda