Your browser doesn't support javascript.
loading
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Lynch, Danielle C; Revil, Timothée; Schwartzentruber, Jeremy; Bhoj, Elizabeth J; Innes, A Micheil; Lamont, Ryan E; Lemire, Edmond G; Chodirker, Bernard N; Taylor, Juliet P; Zackai, Elaine H; McLeod, D Ross; Kirk, Edwin P; Hoover-Fong, Julie; Fleming, Leah; Savarirayan, Ravi; Majewski, Jacek; Jerome-Majewska, Loydie A; Parboosingh, Jillian S; Bernier, Francois P.
Afiliación
  • Lynch DC; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1.
  • Revil T; Department of Human Genetics, McGill University, Montréal, Quebec, Canada H3A 1B1.
  • Schwartzentruber J; McGill University and Génome Québec Innovation Centre, Montréal, Quebec, Canada H3A 0G1.
  • Bhoj EJ; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
  • Innes AM; 1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8.
  • Lamont RE; 1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8.
  • Lemire EG; Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada S7N 0W8.
  • Chodirker BN; 1] Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada R3A 1S1 [2] Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada R3A 1S1.
  • Taylor JP; Genetic Health Service, Auckland 1142, New Zealand.
  • Zackai EH; Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
  • McLeod DR; 1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8.
  • Kirk EP; 1] Sydney Children's Hospital, Randwick, New South Wales 2031, Australia [2] School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales 2031, Australia.
  • Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.
  • Fleming L; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
  • Savarirayan R; Department of Pediatrics, McGill University Health Centre, Montreal, Quebec H3Z 2Z3, Canada.
  • Majewski J; 1] Department of Human Genetics, McGill University, Montréal, Quebec, Canada H3A 1B1 [2] McGill University and Génome Québec Innovation Centre, Montréal, Quebec, Canada H3A 0G1.
  • Jerome-Majewska LA; 1] Department of Human Genetics, McGill University, Montréal, Quebec, Canada H3A 1B1 [2] Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada H3H 1P3.
  • Parboosingh JS; 1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].
  • Bernier FP; 1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].
Nat Commun ; 5: 4483, 2014 Jul 22.
Article en En | MEDLINE | ID: mdl-25047197
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Costillas / Proteínas Nucleares snRNP / Discapacidad Intelectual / Micrognatismo / Mutación Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2014 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Costillas / Proteínas Nucleares snRNP / Discapacidad Intelectual / Micrognatismo / Mutación Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2014 Tipo del documento: Article Pais de publicación: Reino Unido