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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn A; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid M; Tan, Tiong Yang; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia R; Heloury, Yves; Zacharin, Margaret; Bergman, Philip; Kimber, Chris; Brown, Justin; Webb, Nathalie; Hunter, Matthew F; Srinivasan, Shubha; Titmuss, Angela; Verge, Charles F; Mowat, David; Smith, Grahame; Smith, Janine; Ewans, Lisa; Shalhoub, Carolyn; Crock, Patricia; Cowell, Chris; Leong, Gary M; Ono, Makato; Lafferty, Antony R; Huynh, Tony; Visser, Uma; Choong, Catherine S; McKenzie, Fiona; Pachter, Nicholas; Thompson, Elizabeth M; Couper, Jennifer; Baxendale, Anne; Gecz, Jozef; Wheeler, Benjamin J; Jefferies, Craig; MacKenzie, Karen; Hofman, Paul; Carter, Philippa; King, Richard I.
Afiliação
  • Eggers S; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Sadedin S; Victorian Clinical Genetic Services, Melbourne, VIC, Australia.
  • van den Bergen JA; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Robevska G; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Ohnesorg T; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Hewitt J; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Lambeth L; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Bouty A; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Knarston IM; University of Melbourne, School of Bioscience, Melbourne, VIC, Australia.
  • Tan TY; Department Of Paediatric Urology, Monash Children's Hospital, Clayton, VIC, Australia.
  • Cameron F; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Werther G; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Hutson J; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • O'Connell M; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Grover SR; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Heloury Y; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Zacharin M; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Bergman P; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Kimber C; Victorian Clinical Genetic Services, Melbourne, VIC, Australia.
  • Brown J; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Webb N; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Hunter MF; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Srinivasan S; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Titmuss A; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Verge CF; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Mowat D; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Smith G; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Smith J; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Ewans L; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Shalhoub C; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Crock P; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Cowell C; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Leong GM; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
  • Ono M; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Lafferty AR; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, VIC, Australia.
  • Huynh T; Monash Medical Centre, Clayton, VIC, Australia.
  • Visser U; Monash Children's Hospital, Clayton, VIC, Australia.
  • Choong CS; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, VIC, Australia.
  • McKenzie F; Department of Paediatrics, Monash University, Clayton, VIC, Australia.
  • Pachter N; Department Of Paediatric Urology, Monash Children's Hospital, Clayton, VIC, Australia.
  • Thompson EM; Department of Paediatrics, Monash University, Clayton, VIC, Australia.
  • Couper J; Monash Genetics, Monash Health, Clayton, VIC, Australia.
  • Baxendale A; The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW, Australia.
  • Gecz J; The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW, Australia.
  • Wheeler BJ; Sydney Children's Hospital, Randwick, NSW, Australia.
  • Jefferies C; School of Women's and Children's Health, UNSW, Sydney, NSW, Australia.
  • MacKenzie K; Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Hofman P; Urology and Clinical Programs, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Carter P; The University of Sydney, Westmead, NSW, Australia.
  • King RI; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
Genome Biol ; 17(1): 243, 2016 11 29.
Article em En | MEDLINE | ID: mdl-27899157
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Aberrações Cromossômicas / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Aberrações Cromossômicas / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2016 Tipo de documento: Article