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Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar, Saumya S; Schmitz-Abe, Klaus; D'Gama, Alissa M; Drottar, Marie; Chan, Wai-Man; Peeva, Maya; Servattalab, Sarah; Lam, Anh-Thu N; Delgado, Mauricio R; Clegg, Nancy J; Zayed, Zayed Al; Dogar, Mohammad Asif; Alorainy, Ibrahim A; Jamea, Abdullah Abu; Abu-Amero, Khaled; Griebel, May; Ward, Wendy; Lein, Ed S; Markianos, Kyriacos; Barkovich, A James; Robson, Caroline D; Grant, P Ellen; Bosley, Thomas M; Engle, Elizabeth C; Walsh, Christopher A; Yu, Timothy W.
Afiliación
  • Jamuar SS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Schmitz-Abe K; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • D'Gama AM; Department of Paediatrics, KK Women's and Children's Hospital, Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore.
  • Drottar M; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Chan WM; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Peeva M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Servattalab S; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Lam AN; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Delgado MR; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Clegg NJ; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Zayed ZA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Dogar MA; Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Alorainy IA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Jamea AA; Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Abu-Amero K; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Griebel M; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Ward W; Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Lein ES; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Markianos K; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Barkovich AJ; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Robson CD; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Grant PE; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bosley TM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Engle EC; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Walsh CA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Yu TW; Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
Nat Genet ; 49(4): 606-612, 2017 Apr.
Article en En | MEDLINE | ID: mdl-28250456
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Neoplasias Colorrectales / Regulación del Desarrollo de la Expresión Génica / Pérdida de Heterocigocidad / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Neoplasias Colorrectales / Regulación del Desarrollo de la Expresión Génica / Pérdida de Heterocigocidad / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos