PMC Articles for MedGen (Select 324374) - PMC

Select item 59416351.

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

Article PDF–981K

Select item 36642182.

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

Article PDF–1.1M

Select item 67507933.

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

Article PDF–2.4M

Select item 59601484.

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona

BMC Med Genet. 2018; 19: 81. Published online 2018 May 18. doi: 10.1186/s12881-018-0598-5

PMCID:: PMC5960148

Article PDF–3.2M

Select item 47463335.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Regie Lyn P. Santos-Cortez, Rabia Faridi, Atteeq U. Rehman, Kwanghyuk Lee, Muhammad Ansar, Xin Wang, Robert J. Morell, Rivka Isaacson, Inna A. Belyantseva, Hang Dai, Anushree Acharya, Tanveer A. Qaiser, Dost Muhammad, Rana Amjad Ali, Sulaiman Shams, Muhammad Jawad Hassan, Shaheen Shahzad, Syed Irfan Raza, Zil-e-Huma Bashir, Joshua D. Smith, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Sheikh Riazuddin, Wasim Ahmad, Thomas B. Friedman, Suzanne M. Leal

Am J Hum Genet. 2016 Feb 4; 98(2): 331–338. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.004

PMCID:: PMC4746333

Article PDF–464K

Select item 45673926.

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

Article PDF–786K

Select item 29090947.

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

Regie Lyn P. Santos, Muhammad Jawad Hassan, Shaheen Sikandar, Kwanghyuk Lee, Ghazanfar Ali, Protacio E. Martin, Jr, Michael Angelo L. Wambangco, Wasim Ahmad, Suzanne M. Leal

Hum Genet. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Genet. 2006 Aug; 120(1): 85–92. Published online 2006 May 16. doi: 10.1007/s00439-006-0188-z

PMCID:: PMC2909094

Article PDF–1.2M

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