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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T; Vitry, Sandrine; Rad, Aboulfazl; Rüschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J H; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R; Varshney, Gaurav K; Galehdari, Hamid.
Afiliação
  • Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. barbara.vona@uni-wuerzburg.de.
  • Mazaheri N; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany. barbara.vona@uni-wuerzburg.de.
  • Lin SJ; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Dunbar LA; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Maroofian R; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Didcot, OX11 0RD, UK.
  • Azaiez H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Vitry S; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Rad A; Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
  • Rüschendorf F; Unit Progressive Sensory Disorders, Pathophysiology and Therapy Institut Pasteur, Institut de L'Audition, INSERM-UMRS1120, Sorbonne Université, 63 rue de Charenton, 75012, Paris, France.
  • Varshney P; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany.
  • Fowler B; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125, Berlin, Germany.
  • Beetz C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Alagramam KN; Imaging & Histology Core, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Murphy D; Centogene AG, Rostock, Germany.
  • Shariati G; Department of Otolaryngology, School of Medicine, University Hospitals Cleveland Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106, USA.
  • Sedaghat A; Department of Neurosciences, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44106, USA.
  • Houlden H; Department of Genetics and Genomic Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA.
  • Petree C; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • VijayKumar S; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran.
  • Smith RJH; Narges Medical Genetics and Prenatal Diagnostics Laboratory, East Mihan Ave, Kianpars, Ahvaz, Iran.
  • Haaf T; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • El-Amraoui A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Bowl MR; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Galehdari H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology and Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Hum Genet ; 140(6): 915-931, 2021 Jun.
Article em En | MEDLINE | ID: mdl-33496845
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Mutação Puntual / Substituição de Aminoácidos / Tetraspaninas / Células Ciliadas Auditivas Internas / Perda Auditiva Neurossensorial / Proteínas de Membrana Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Mutação Puntual / Substituição de Aminoácidos / Tetraspaninas / Células Ciliadas Auditivas Internas / Perda Auditiva Neurossensorial / Proteínas de Membrana Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha