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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho, Claudia M B; Vasanth, Shivakumar; Shinawi, Marwan; Russell, Chad; Ramocki, Melissa B; Brown, Chester W; Graakjaer, Jesper; Skytte, Anne-Bine; Vianna-Morgante, Angela M; Krepischi, Ana C V; Patel, Gayle S; Immken, LaDonna; Aleck, Kyrieckos; Lim, Cynthia; Cheung, Sau Wai; Rosenberg, Carla; Katsanis, Nicholas; Lupski, James R.
Affiliation
  • Carvalho CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Centro de Pesquisas René Rachou - FIOCRUZ, Belo Horizonte, MG 30190-002, Brazil.
  • Vasanth S; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St Louis, MO 63110-1093, USA.
  • Russell C; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
  • Ramocki MB; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Brown CW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Graakjaer J; Clinical Genetics Department, Vejle Hospital, Vejle 7100, Denmark.
  • Skytte AB; Clinical Genetics Department, Vejle Hospital, Vejle 7100, Denmark.
  • Vianna-Morgante AM; Department of Genetics & Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP 05508-090, Brazil.
  • Krepischi AC; Department of Genetics & Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP 05508-090, Brazil.
  • Patel GS; Texas Oncology, Austin, TX 78731, USA.
  • Immken L; Specially for Children, Austin, TX 78723, USA.
  • Aleck K; Phoenix Children's Hospital, Phoenix, AZ 85006, USA.
  • Lim C; Phoenix Children's Hospital, Phoenix, AZ 85006, USA.
  • Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenberg C; Department of Genetics & Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, SP 05508-090, Brazil.
  • Katsanis N; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA. Electronic address: nicholas.katsanis@dm.duke.edu.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Am J Hum Genet ; 95(5): 565-78, 2014 Nov 06.
Article in En | MEDLINE | ID: mdl-25439725
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Gene Dosage / Intellectual Disability / Microcephaly Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: Brazil
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Gene Dosage / Intellectual Disability / Microcephaly Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article Affiliation country: Brazil