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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A; Oza, Andrea M; Lafferty, Katherine; Amr, Sami S; Rehm, Heidi L; Kolbe, Diana L; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C; Scher, Sholem Y; Ekstein, Josef; Avraham, Karen B; Smith, Richard J H; Shen, Jun.
Afiliación
  • Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, 11211, USA.
  • Tangshewinsirikul C; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
  • Booth KT; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA.
  • Yefet D; Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA.
  • Quint A; Molecular Otolaryngology and Renal Research Laboratories, The University of Iowa, Iowa City, IA, 52242, USA.
  • Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel.
  • Brownstein Z; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel.
  • Macarov M; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem, 91506, Israel.
  • Davidov B; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 6997801, Israel.
  • Pappas J; Department of Genetics and Metabolic Diseases, Hadassah Medical Center, Jerusalem, 91120, Israel.
  • Rabin R; Department of Medical Genetics, Rabin Medical Center, Petah Tikva, 49100, Israel.
  • Kenna MA; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA.
  • Oza AM; Department of Pediatrics, New York University School of Medicine, New York, NY, 10016, USA.
  • Lafferty K; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Amr SS; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.
  • Rehm HL; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Kolbe DL; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.
  • Frees K; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.
  • Nishimura C; Maine Medical Center, Scarborough, ME, 04074, USA.
  • Luo M; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.
  • Farra C; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.
  • Morton CC; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Scher SY; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.
  • Ekstein J; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, 02139, USA.
  • Avraham KB; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Smith RJH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
  • Shen J; The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Eur J Hum Genet ; 29(6): 988-997, 2021 06.
Article en En | MEDLINE | ID: mdl-33398081
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miosinas / Frecuencia de los Genes / Pérdida Auditiva Tipo de estudio: Clinical_trials / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miosinas / Frecuencia de los Genes / Pérdida Auditiva Tipo de estudio: Clinical_trials / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos