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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Vianna, Evelyn Quintanilha; Piergiorge, Rafael Mina; Gonçalves, Andressa Pereira; Dos Santos, Jussara Mendonça; Calassara, Veluma; Rosenberg, Carla; Krepischi, Ana Cristina Victorino; Boy da Silva, Raquel Tavares; Dos Santos, Suely Rodrigues; Ribeiro, Márcia Gonçalves; Machado, Filipe Brum; Medina-Acosta, Enrique; Pimentel, Márcia Mattos Gonçalves; Santos-Rebouças, Cíntia Barros.
Afiliação
  • Vianna EQ; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Piergiorge RM; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Gonçalves AP; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Dos Santos JM; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Calassara V; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
  • Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
  • Boy da Silva RT; Pedro Ernesto University Hospital, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Dos Santos SR; Gaffrée and Guinle University Hospital, Federal University of Rio de Janeiro State, Rio de Janeiro, Brazil.
  • Ribeiro MG; Clinical Genetics Service, IPPMG, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Machado FB; Department of Biological Sciences, Minas Gerais State University, Belo Horizonte, Minas Gerais, Brazil.
  • Medina-Acosta E; Laboratory of Biotechnology, State University of Northern Rio de Janeiro Darcy Ribeiro, Rio de Janeiro, Brazil.
  • Pimentel MMG; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.
  • Santos-Rebouças CB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil. cbs@uerj.br.
Mol Neurobiol ; 57(9): 3671-3684, 2020 Sep.
Article em En | MEDLINE | ID: mdl-32564284
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Genes Ligados ao Cromossomo X / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Genes Ligados ao Cromossomo X / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article