Your browser doesn't support javascript.
loading
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater, Justin A; Penney, Cindy; O'Rielly, Darren D; Griffin, Anne; Kamal, Lara; Brownstein, Zippora; Vona, Barbara; Vinkler, Chana; Shohat, Mordechai; Barel, Ortal; French, Curtis R; Singh, Sushma; Werdyani, Salem; Burt, Taylor; Abdelfatah, Nelly; Houston, Jim; Doucette, Lance P; Squires, Jessica; Glaser, Fabian; Roslin, Nicole M; Vincent, Daniel; Marquis, Pascale; Woodland, Geoffrey; Benoukraf, Touati; Hawkey-Noble, Alexia; Avraham, Karen B; Stanton, Susan G; Young, Terry-Lynn.
Afiliación
  • Pater JA; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Penney C; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
  • O'Rielly DD; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Griffin A; Centre for Translational Genomics, Memorial University, 300 Prince Phillip Dr., St. John's, NL, Canada.
  • Kamal L; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Brownstein Z; Centre for Translational Genomics, Memorial University, 300 Prince Phillip Dr., St. John's, NL, Canada.
  • Vona B; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Vinkler C; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, 6997801, Tel Aviv, Israel.
  • Shohat M; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, 6997801, Tel Aviv, Israel.
  • Barel O; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • French CR; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
  • Singh S; Institute of Medical Genetics, Wolfson Medical Center, 58100, Holon, Israel.
  • Werdyani S; Bioinformatic Center, Cancer Research Institute, The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Burt T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Abdelfatah N; Bioinformatic Center, Cancer Research Institute, The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Houston J; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Doucette LP; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Squires J; Communication Sciences and Disorders, Elborn College, Western University, 1201 Western Road, London, ON, Canada.
  • Glaser F; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Roslin NM; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Vincent D; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Marquis P; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Woodland G; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Benoukraf T; Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, NL, Canada.
  • Hawkey-Noble A; The Lorry I. Lokey Center for Life Sciences and Engineering, Technion-Israel Institute of Technology, Haifa, Israel.
  • Avraham KB; The Centre for Applied Genomics, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, ON, Canada.
  • Stanton SG; Genome Quebec Innovation Centre, McGill University, 740 Dr. Penfield Avenue, Montreal, QC, Canada.
  • Young TL; Canadian Centre for Computational Genomics, McGill University and Genome Quebec Innovation Center, 740 Dr. Penfield Avenue, Montreal, QC, Canada.
Hum Genet ; 141(3-4): 431-444, 2022 Apr.
Article en En | MEDLINE | ID: mdl-35278131
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Sordera / Pérdida Auditiva / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Sordera / Pérdida Auditiva / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article