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INNER EAR

Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss

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Pages 1002-1008 | Received 28 Nov 2009, Accepted 14 Jan 2010, Published online: 16 Mar 2010

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Asli Subasioglu Uzak, Nilgun Cakar, Elif Comak, Fatos Yalcinkaya & Mustafa Tekin. (2013) ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families. Renal Failure 35:9, pages 1281-1284.
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Yoshihiro Noguchi, Taku Ito, Ayako Nishio, Keiji Honda & Ken Kitamura. (2011) Audiovestibular findings in a branchio-oto syndrome patient with a SIX1 mutation. Acta Oto-Laryngologica 131:4, pages 413-418.
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Articles from other publishers (19)

Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin & Rezan Topaloglu. (2023) Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology and Neurotology, pages 1-10.
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Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare & Ambroise Wonkam. (2021) Hearing loss in Africa: current genetic profile. Human Genetics 141:3-4, pages 505-517.
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Laura Escobar-Pérez & Rosa Vargas-Poussou. 2022. Renal Tubular Acidosis in Children. Renal Tubular Acidosis in Children 57 70 .
Detlef Bockenhauer, Sergio Camilo Lopez-Garcia & Stephen B. Walsh. 2022. Pediatric Nephrology. Pediatric Nephrology 903 928 .
Sebastian Roesch, Gerd Rasp, Antonio Sarikas & Silvia Dossena. (2021) Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review. Audiology Research 11:3, pages 423-442.
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Detlef Bockenhauer, Sergio Camilo Lopez-Garcia & Stephen B. Walsh. 2020. Pediatric Nephrology. Pediatric Nephrology 1 26 .
Malika Dahmani, Sonia Talbi, Fatima Ammar-Khodja, Sofiane Ouhab, Farid Boudjenah, Merieme Djebbar, Crystel Bonnet & Christine Petit. (2020) ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology 129, pages 109772.
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Li-Yih Lin, Giun-Yi Hung, Ya-Hsin Yeh, Sheng-Wen Chen & Jiun-Lin Horng. (2019) Acidified water impairs the lateral line system of zebrafish embryos. Aquatic Toxicology 217, pages 105351.
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. (2019) 遺伝性疾患としての内耳奇形の診断. Nippon Jibiinkoka Gakkai Kaiho 123:3, pages 210-216.
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Sebastian Roesch, Emanuele Bernardinelli, Charity Nofziger, Miklós Tóth, Wolfgang Patsch, Gerd Rasp, Markus Paulmichl & Silvia Dossena. (2018) Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria. International Journal of Molecular Sciences 19:1, pages 209.
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Yoshihiro Noguchi, Satoshi Fukuda, Kunihiro Fukushima, Kiyofumi Gyo, Akira Hara, Tsutomu Nakashima, Kaoru Ogawa, Makito Okamoto, Hiroaki Sato, Shin-ichi Usami, Tatsuya Yamasoba, Tetsuji Yokoyama & Ken Kitamura. (2017) A nationwide study on enlargement of the vestibular aqueduct in Japan. Auris Nasus Larynx 44:1, pages 33-39.
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Lihe Chen, Paul J. Higgins & Wenzheng Zhang. 2017. Kidney Development and Disease. Kidney Development and Disease 165 203 .
. (2015) . Nippon Jibiinkoka Gakkai Kaiho 118:10, pages 1267-1272.
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Yoshihiro Noguchi. (2015) Inner ear anomaly. Equilibrium Research 74:4, pages 247-256.
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Ha Yeon Kim, Sung Sun Kim, Eun Hui Bae, Seong Kwon Ma & Soo Wan Kim. (2015) Decreased Renal Expression of H<sup>+</sup>-ATPase and Pendrin in a Patient with Distal Renal Tubular Acidosis Associated with Sj&ouml;gren's Syndrome. Internal Medicine 54:22, pages 2899-2904.
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Bo Jan Noordman, Eveline van Beeck Calkoen, Birgit Witte, Theo Goverts, Erik Hensen & Paul Merkus. (2015) Prognostic Factors for Sudden Drops in Hearing Level After Minor Head Injury in Patients With an Enlarged Vestibular Aqueduct. Otology & Neurotology 36:1, pages 4-11.
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N Mohebbi, R Vargas‐Poussou, SCA Hegemann, B Schuknecht, AD Kistler, RP Wüthrich & CA Wagner. (2013) Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss . Clinical Genetics 83:3, pages 274-278.
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Yoshihiro Noguchi, Taku Ito, Yoshiyuki Kawashima, Ayako Nishio, Keiji Honda & Ken Kitamura. (2013) Audiovestibular findings in patients with enlargement of the vestibular aqueduct caused by mutations of SLC26A4, ATP6V1B1 or SIX1. Equilibrium Research 72:2, pages 97-106.
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D. Batlle & S. K. Haque. (2012) Genetic causes and mechanisms of distal renal tubular acidosis. Nephrology Dialysis Transplantation 27:10, pages 3691-3704.
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