PMC Articles for MedGen (Select 1633308) - PMC - NCBI

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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

Abstract Article PDF–981K

Select item 35110932.

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation

Andrei N. Lukashkin, P. Kevin Legan, Thomas D. Weddell, Victoria A. Lukashkina, Richard J. Goodyear, Lindsey J. Welstead, Christine Petit, Ian J. Russell, Guy P. Richardson

Proc Natl Acad Sci U S A. 2012 Nov 20; 109(47): 19351–19356. Published online 2012 Nov 5. doi: 10.1073/pnas.1210159109

PMCID:: PMC3511093

Abstract Article PDF–927K

Select item 34270753.

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Elizabeth E. Norgett, Zoe J. Golder, Beatriz Lorente-Cánovas, Neil Ingham, Karen P. Steel, Fiona E. Karet Frankl

Proc Natl Acad Sci U S A. 2012 Aug 21; 109(34): 13775–13780. Published online 2012 Aug 7. doi: 10.1073/pnas.1204257109

PMCID:: PMC3427075

Abstract Article PDF–735K

Select item 24272684.

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family

Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati, Mohammad Farhadi, Elliot Stollar, Thomas Somers, Guy Van Camp

Am J Hum Genet. 2008 Apr 11; 82(4): 982–991. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.02.015

Correction in:: Am J Hum Genet. 2008 Sep 12; 83(3): 424.

PMCID:: PMC2427268

Abstract Article PDF–1.3M

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