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An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
Chin, Hui-Lin; O'Neill, Kieran; Louie, Kristal; Brown, Lindsay; Schlade-Bartusiak, Kamilla; Eydoux, Patrice; Rupps, Rosemarie; Farahani, Ali; Boerkoel, Cornelius F; Jones, Steven J M.
Afiliación
  • Chin HL; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • O'Neill K; Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore.
  • Louie K; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada.
  • Brown L; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Schlade-Bartusiak K; Department of Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Eydoux P; Department of Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Rupps R; Department of Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Farahani A; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Boerkoel CF; Preventum Personalized Healthcare, Vancouver, British Columbia, Canada.
  • Jones SJM; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Am J Med Genet A ; 185(8): 2541-2545, 2021 08.
Article en En | MEDLINE | ID: mdl-34018669
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Pruebas Genéticas / Distrofina / Distrofia Muscular de Duchenne / Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Pruebas Genéticas / Distrofina / Distrofia Muscular de Duchenne / Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá