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The diverse genetic landscape of neurodevelopmental disorders.
Hu, Wen F; Chahrour, Maria H; Walsh, Christopher A.
Afiliação
  • Hu WF; Division of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email: wenfanhu@hms.harvard.edu , maria.chahrour@childrens.harvard.edu , christopher.walsh@childrens.harvard.edu.
Annu Rev Genomics Hum Genet ; 15: 195-213, 2014.
Article em En | MEDLINE | ID: mdl-25184530
ABSTRACT
Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Córtex Cerebral / Transtornos Globais do Desenvolvimento Infantil / Malformações do Desenvolvimento Cortical / Neurônios Limite: Child / Humans Idioma: En Revista: Annu Rev Genomics Hum Genet Assunto da revista: GENETICA / GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Córtex Cerebral / Transtornos Globais do Desenvolvimento Infantil / Malformações do Desenvolvimento Cortical / Neurônios Limite: Child / Humans Idioma: En Revista: Annu Rev Genomics Hum Genet Assunto da revista: GENETICA / GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article