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Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
Santos-Rebouças, Cíntia Barros; de Almeida, Luciana Guedes; Belet, Stefanie; Dos Santos, Suely Rodrigues; Ribeiro, Márcia Gonçalves; da Silva, Antônio Francisco Alves; Medina-Acosta, Enrique; Dos Santos, Jussara Mendonça; Gonçalves, Andressa Pereira; Bahia, Paulo Roberto Valle; Pimentel, Márcia Mattos Gonçalves; Froyen, Guy.
  • Santos-Rebouças CB; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • de Almeida LG; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Belet S; 1] Human Genome Laboratory, VIB Center for the Biology of Disease, KU Leuven, Leuven, Belgium [2] Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.
  • 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.
  • da Silva AF; Laboratory of Biotechnology, Center for Biosciences and Biotechnology, State University of North Fluminense Darcy Ribeiro, Rio de Janeiro, Brazil.
  • Medina-Acosta E; Laboratory of Biotechnology, Center for Biosciences and Biotechnology, State University of North Fluminense Darcy Ribeiro, Rio de Janeiro, Brazil.
  • Dos Santos JM; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Gonçalves AP; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Bahia PR; Department of Radiology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Pimentel MM; Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Froyen G; 1] Human Genome Laboratory, VIB Center for the Biology of Disease, KU Leuven, Leuven, Belgium [2] Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.
J Hum Genet ; 60(4): 207-11, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25652354
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos X / Ubiquitina-Proteína Ligasas / Duplicación Cromosómica / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos X / Ubiquitina-Proteína Ligasas / Duplicación Cromosómica / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article