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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Bartlett, Essra; Archibald, Alison D; Francis, David; Ling, Ling; Thomas, Rob; Chandler, Gabrielle; Ward, Lisa; O'Farrell, Gemma; Pandelache, Alison; Delatycki, Martin B; Bennetts, Bruce H; Ho, Gladys; Fisk, Katrina; Baker, Emma K; Amor, David J; Godler, David E.
Afiliação
  • Bartlett E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Archibald AD; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Francis D; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Ling L; Bruce Lefroy Centre, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Thomas R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Chandler G; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Ward L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • O'Farrell G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Pandelache A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Bennetts BH; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Ho G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Fisk K; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Baker EK; Bruce Lefroy Centre, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Amor DJ; Sydney Genome Diagnostics-Molecular Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Godler DE; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Am J Med Genet A ; 188(1): 304-309, 2022 01.
Article em En | MEDLINE | ID: mdl-34545686

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína do X Frágil da Deficiência Intelectual / Síndrome do Cromossomo X Frágil Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Austrália
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