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Items: 4

1.
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China
Ying Lin, Feng Yu, Yuelong Jiao, Feng Zhou
J Int Adv Otol. 2019 Aug; 15(2): 247–252. Published online 2019 Jul 24. doi: 10.5152/iao.2019.6512
PMCID:
PMC6750793
AbstractArticlePDF–2.4M
2.
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto
BMC Med Genet. 2018; 19: 73. Published online 2018 May 8. doi: 10.1186/s12881-018-0585-x
PMCID:
PMC5941635
AbstractArticlePDF–981K
3.
Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss
Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai
Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206
PMCID:
PMC4567392
AbstractArticlePDF–786K
4.
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki
BMC Med Genet. 2013; 14: 56. Published online 2013 May 24. doi: 10.1186/1471-2350-14-56
PMCID:
PMC3664218
AbstractArticlePDF–1.1M

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