Your browser doesn't support javascript.
loading
NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch, Daniëlle G M; Boonstra, F Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M; Yntema, Helger G; Pfundt, Rolph; Vissers, Lisenka E L M; Spruijt, Liesbeth; Blokland, Ellen A W; Chen, Chun-An; Lewis, Richard A; Tsai, Sophia Y; Gibbs, Richard A; Tsai, Ming-Jer; Lupski, James R; Zoghbi, Huda Y; Cremers, Frans P M; de Vries, Bert B A; Schaaf, Christian P.
  • Bosch DG; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Don
  • Boonstra FN; Bartiméus, Institute for the Visually Impaired, 3700 BA Zeist, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Xu M; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • de Ligt J; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical center, 650
  • Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yntema HG; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • Vissers LE; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical center, 650
  • Spruijt L; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Research Institute for Oncology, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • Blokland EA; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • Chen CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030,
  • Tsai SY; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tsai MJ; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zoghbi HY; 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; Howard Hughes Medical Institute, 4000 Jones Bridge Road, Chevy Chase, MD 20815, USA; Department of Neuroscience, Program in De
  • Cremers FP; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, 6500 HB Nijmegen, the Netherlands.
  • de Vries BB; Department of Human Genetics, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, 6500 HB Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud university medical cente
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: schaaf@bcm.edu.
Am J Hum Genet ; 94(2): 303-9, 2014 Feb 06.
Article en En | MEDLINE | ID: mdl-24462372
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Óptica / Factor de Transcripción COUP I / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Óptica / Factor de Transcripción COUP I / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article