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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani, Seema R; Zhang, Jing; Schaaf, Christian P; Brown, Chester W; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, Mary K; Burrage, Lindsay C; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, William J; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, Matthew N; Muzny, Donna M; Boerwinkle, Eric; Person, Richard E; Niu, Zhiyv; Eng, Christine M; Lupski, James R; Gibbs, Richard A; Beaudet, Arthur L; Yang, Yaping; Wang, Meng C; Xia, Fan.
Afiliación
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: seemal@bcm.edu.
  • Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schaaf CP; 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.
  • 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.
  • Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tsai AC; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR 97239, USA.
  • El-Gharbawy A; Department of Pediatrics and Division of Medical Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  • Wierenga KJ; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
  • Bartholomew D; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Fong CT; Clinic of Inherited Metabolic Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Barbaro-Dieber T; Clinical Genetics, Cook Children's Hospital, Fort Worth, TX 76102, USA.
  • Kukolich MK; Clinical Genetics, Cook Children's Hospital, Fort Worth, TX 76102, USA.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Austin E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Keller K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR 97239, USA.
  • Pastore M; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Fernandez F; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lotze T; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wilfong A; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Purcarin G; Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
  • Zhu W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cooney E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bainbridge MN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77030, USA.
  • Person RE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.
  • Niu Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; 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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's
  • 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.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wang MC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Whole Genome Laboratory, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: fxia@bcm.edu.
Am J Hum Genet ; 95(5): 579-83, 2014 Nov 06.
Article en En | MEDLINE | ID: mdl-25439098
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Convulsiones / Factores de Transcripción / Anomalías Múltiples / Cromosomas Humanos Par 5 / Deleción Cromosómica / Proteínas de Unión al ADN / Hipotonía Muscular Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Convulsiones / Factores de Transcripción / Anomalías Múltiples / Cromosomas Humanos Par 5 / Deleción Cromosómica / Proteínas de Unión al ADN / Hipotonía Muscular Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article