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Original Article

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

Aspectos audiológicos y vestibulares en sujetos afectados con USH3: una correlación de genotipo/fenotipo

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Pages 307-316 | Received 29 Mar 2004, Published online: 07 Jul 2009

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Mazal Cohen, Maria Bitner-Glindzicz & Linda Luxon. (2007) The changing face of Usher syndrome: Clinical implications. International Journal of Audiology 46:2, pages 82-93.
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Ulf Rosenhall. (2006) Deaf-blindness and combined impairments of hearing and vision. Audiological Medicine 4:3, pages 109-116.
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Articles from other publishers (21)

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel & Isabelle Audo. (2022) Retinal Phenotype of Patients with CLRN1 -Associated Usher 3A Syndrome in French Light4Deaf Cohort . Investigative Opthalmology & Visual Science 63:4, pages 25.
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Azmi Marouf, Benjamin Johnson & Kumar N. Alagramam. (2022) Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches. Human Genetics 141:3-4, pages 759-783.
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Alessandro Castiglione & Claes Möller. (2022) Usher Syndrome. Audiology Research 12:1, pages 42-65.
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Talah T. Wafa, Rabia Faridi, Kelly A. King, Christopher Zalewski, Rizwan Yousaf, Julie M. Schultz, Robert J. Morell, Julie Muskett, Amy Turriff, Ekaterini Tsilou, Andrew J. Griffith, Thomas B. Friedman, Wadih M. Zein & Carmen C. Brewer. (2020) Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome . Clinical Genetics 99:2, pages 226-235.
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Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi & Belal Azab. (2020) Extending the spectrum of CLRN1 ‐ and ABCA4 ‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing . Molecular Genetics & Genomic Medicine 8:3.
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Maria Toms, Waheeda Pagarkar & Mariya Moosajee. (2020) Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology 12, pages 251584142095219.
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Didier Dulon, Samantha Papal, Pranav Patni, Matteo Cortese, Philippe F.Y. Vincent, Margot Tertrais, Alice Emptoz, Abdelaziz Tlili, Yohan Bouleau, Vincent Michel, Sedigheh Delmaghani, Alain Aghaie, Elise Pepermans, Olinda Alegria-Prevot, Omar Akil, Lawrence Lustig, Paul Avan, Saaid Safieddine, Christine Petit & Aziz El-Amraoui. (2018) Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. Journal of Clinical Investigation 128:8, pages 3382-3401.
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Moa Wahlqvist, Claes Möller, Kerstin Möller & Berth Danermark. (2016) Implications of Deafblindness: The Physical and Mental Health and Social Trust of Persons with Usher Syndrome Type 3. Journal of Visual Impairment & Blindness 110:4, pages 245-256.
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Moa Wahlqvist, Kerstin Möller, Claes Möller & Berth Danermark. (2015) Physical and psychological health, social trust, and financial situation for persons with Usher syndrome type 1. British Journal of Visual Impairment 34:1, pages 15-25.
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Hidekane Yoshimura, Chie Oshikawa, Jun Nakayama, Hideaki Moteki & Shin-ichi Usami. (2015) Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3 . Annals of Otology, Rhinology & Laryngology 124:1_suppl, pages 94S-99S.
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Bart P. Leroy. 2014. Inherited Chorioretinal Dystrophies. Inherited Chorioretinal Dystrophies 143 149 .
T.J. Hollingsworth & Alecia K. Gross. 2012. 1 44 .
Robert W. Eppsteiner & Richard J.H. Smith. (2011) Genetic disorders of the vestibular system. Current Opinion in Otolaryngology & Head & Neck Surgery 19:5, pages 397-402.
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Muhammad Imran Khan, Ferry F.J. Kersten, Maleeha Azam, Rob W.J. Collin, Alamdar Hussain, Syed Tahir-A. Shah, Jan E.E. Keunen, Hannie Kremer, Frans P.M. Cremers, Raheel Qamar & Anneke I. den Hollander. (2011) CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa. Ophthalmology 118:7, pages 1444-1448.
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Josara Wallber. (2009) Audiologists’ Role in Early Diagnosis of Usher Syndrome. The ASHA Leader 14:16, pages 5-6.
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H Nakanishi, M Ohtsubo, S Iwasaki, Y Hotta, K Mizuta, H Mineta & S Minoshima. (2009) Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 . Clinical Genetics 76:4, pages 383-391.
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Scott F. Geller, Karen I. Guerin, Meike Visel, Aaron Pham, Edwin S. Lee, Amiel A. Dror, Karen B. Avraham, Toshinori Hayashi, Catherine A. Ray, Thomas A. Reh, Olivia Bermingham-McDonogh, William J. Triffo, Shaowen Bao, Juha Isosomppi, Hanna Västinsalo, Eeva-Marja Sankila & John G. Flannery. (2009) CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development. PLoS Genetics 5:8, pages e1000607.
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Magnus Teschner, Juergen Neuburger, Roland Gockeln, Thomas Lenarz & Anke Lesinski-Schiedat. (2007) “Minimized rotational vestibular testing” as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome Type I. European Archives of Oto-Rhino-Laryngology 265:7, pages 759-763.
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David S. Williams. (2008) Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Research 48:3, pages 433-441.
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David S. Williams. 2007. Retinal Degenerations. Retinal Degenerations 137 148 .
André M. Sadeghi, Kristina Eriksson, William J. Kimberling, Anders Sjöström & Claes Möller. (2006) Longterm visual prognosis in Usher syndrome types 1 and 2. Acta Ophthalmologica Scandinavica 84:4, pages 537-544.
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