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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers, Christina; Kaufmann, Lilian; Seitz, Angelika; Paramasivam, Nagarajan; Granzow, Martin; Karch, Stephanie; Fischer, Christine; Hinderhofer, Katrin; Gdynia, Georg; Elsässer, Michael; Pinkert, Stefan; Schlesner, Matthias; Bartram, Claus R; Moog, Ute.
Afiliación
  • Evers C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Seitz A; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
  • Paramasivam N; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Granzow M; Medical Faculty Heidelberg, Heidelberg University, Germany.
  • Karch S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Fischer C; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.
  • Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Gdynia G; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Elsässer M; Institute of Pathology, University of Heidelberg, Heidelberg, Germany.
  • Pinkert S; German Cancer Research Center, Clinical Cooperation Unit Molecular Tumor Pathology, Heidelberg, Germany.
  • Schlesner M; Department of Obstetrics and Gynecology, Prenatal Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Bartram CR; Genomics and Proteomics Core Facility (GPCF), High Throughput Sequencing, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Moog U; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Am J Med Genet A ; 170(6): 1502-9, 2016 06.
Article en En | MEDLINE | ID: mdl-27016154
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cerebelo / Proteínas de Ciclo Celular / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma / Discapacidad Intelectual / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cerebelo / Proteínas de Ciclo Celular / Secuenciación de Nucleótidos de Alto Rendimiento / Exoma / Discapacidad Intelectual / Mutación / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article