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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J; van de Kamp, Jiddeke M; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine; Kremer, Hannie; Locher, Heiko; Maurice, Tangui; Gasparini, Paolo; Girotto, Giorgia; Reymond, Alexandre.
Afiliación
  • Bassani S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • van Beelen E; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Rossel M; Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands.
  • Voisin N; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
  • Morgan A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Arribat Y; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy.
  • Chatron N; Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland.
  • Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Cocca M; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Delprat B; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Faletra F; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy.
  • Giannuzzi G; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
  • Guex N; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy.
  • Machavoine R; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Pradervand S; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.
  • Smits JJ; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France.
  • van de Kamp JM; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Ziegler A; Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Amati F; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Marlin S; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France.
  • Kremer H; Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland.
  • Locher H; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France.
  • Maurice T; Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gasparini P; Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands.
  • Girotto G; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
  • Reymond A; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Hum Mol Genet ; 30(19): 1785-1796, 2021 09 15.
Article en En | MEDLINE | ID: mdl-34059922
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pez Cebra / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pez Cebra / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Suiza