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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Woodward, Karen J; Stampalia, Julie; Vanyai, Hannah; Rijhumal, Hashika; Potts, Kim; Taylor, Fiona; Peverall, Joanne; Grumball, Tanya; Sivamoorthy, Soruba; Alinejad-Rokny, Hamid; Wray, John; Whitehouse, Andrew; Nagarajan, Lakshmi; Scurlock, Jacqueline; Afchani, Sabine; Edwards, Matthew; Murch, Ashleigh; Beilby, John; Baynam, Gareth; Kiraly-Borri, Cathy; McKenzie, Fiona; Heng, Julian I T.
Afiliação
  • Woodward KJ; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Stampalia J; School of Biomedical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  • Vanyai H; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Rijhumal H; The Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Potts K; Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Taylor F; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Peverall J; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Grumball T; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Sivamoorthy S; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Alinejad-Rokny H; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Wray J; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
  • Whitehouse A; The Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Nagarajan L; Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Scurlock J; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
  • Afchani S; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
  • Edwards M; Children's Neuroscience Service, Princess Margaret Hospital, Subiaco, Western Australia, Australia.
  • Murch A; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Beilby J; Rural Health West, Esperance, Western Australia, Australia.
  • Baynam G; State Child Development Centre, West Perth, Western Australia, Australia.
  • Kiraly-Borri C; Lockridge Child Development Centre, Lockridge, Western Australia, Australia.
  • McKenzie F; School of Medicine, Western Sydney University, Penrith South DC, New South Wales, Australia.
  • Heng JIT; Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
Mol Genet Genomic Med ; 7(2): e00507, 2019 02.
Article em En | MEDLINE | ID: mdl-30614210
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiências do Desenvolvimento / Penetrância / Síndrome de DiGeorge / Duplicação Cromossômica / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiências do Desenvolvimento / Penetrância / Síndrome de DiGeorge / Duplicação Cromossômica / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article