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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille, Johane M; Gillett, Roxanne M; LeBlanc, Marissa A; Gaston, Daniel; Nightingale, Mathew; Mackley, Michael P; Parkash, Sandhya; Hathaway, Julie; Thomas, Aidan; Ells, Anna; Traboulsi, Elias I; Héon, Elise; Roy, Mélanie; Shalev, Stavit; Fernandez, Conrad V; MacGillivray, Christine; Wallace, Karin; Fahiminiya, Somayyeh; Majewski, Jacek; McMaster, Christopher R; Bedard, Karen.
Afiliación
  • Robitaille JM; IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada3Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Gillett RM; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • LeBlanc MA; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Gaston D; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Nightingale M; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Mackley MP; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Parkash S; Department of Pediatrics, Maritime Medical Genetics Service, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Hathaway J; Providence Health Care Heart Centre, St. Paul's Hospital, Vancouver Coastal Health, Vancouver, British Columbia, Canada.
  • Thomas A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Ells A; Department of Surgery, University of Calgary, Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.
  • Traboulsi EI; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
  • Héon E; Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Roy M; Réseau de santé Vitalité Health Network, Hôpital regional Chaleur Regional Hospital, Bathurst, New Brunswick, Canada.
  • Shalev S; Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.
  • Fernandez CV; Department of Pediatrics, Pediatric Oncology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • MacGillivray C; Department of Ophthalmology, Capital Health, Halifax, Nova Scotia, Canada.
  • Wallace K; IWK Health Centre Eye Care Team, Halifax, Nova Scotia, Canada2Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Fahiminiya S; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.
  • Majewski J; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada15Genome Quebec Innovation Center, Montreal, Quebec, Canada.
  • McMaster CR; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Bedard K; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
JAMA Ophthalmol ; 132(12): 1393-9, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25124931
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Displasia Retiniana / Cinesinas / Linfedema / Microcefalia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: JAMA Ophthalmol Año: 2014 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Displasia Retiniana / Cinesinas / Linfedema / Microcefalia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: JAMA Ophthalmol Año: 2014 Tipo del documento: Article País de afiliación: Canadá