PMC Articles for MedGen (Select 355880) - PMC

Select item 69260401.

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Paul Avan, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit, Elisabeth Verpy

Proc Natl Acad Sci U S A. 2019 Dec 17; 116(51): 25948–25957. Published online 2019 Nov 27. doi: 10.1073/pnas.1902781116

PMCID:: PMC6926040

Abstract Article PDF–3.3M

Select item 44517182.

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga

Orphanet J Rare Dis. 2015; 10: 60. Published online 2015 May 13. doi: 10.1186/s13023-015-0276-z

PMCID:: PMC4451718

Abstract Article PDF–879K

Select item 40207653.

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Yali Zhao, Dayong Wang, Liang Zong, Feifan Zhao, Liping Guan, Peng Zhang, Wei Shi, Lan Lan, Hongyang Wang, Qian Li, Bing Han, Ling Yang, Xin Jin, Jian Wang, Jun Wang, Qiuju Wang

PLoS One. 2014; 9(5): e97064. Published online 2014 May 14. doi: 10.1371/journal.pone.0097064

PMCID:: PMC4020765

Abstract Article PDF–2.0M

Select item 102186094.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Abstract Article PDF–2.1M

Select item 30804335.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828

PMCID:: PMC3080433

Abstract Article PDF–317K

Select item 29142406.

CD44 is a Marker for the Outer Pillar Cells in the Early Postnatal Mouse Inner Ear

Ronna Hertzano, Chandrakala Puligilla, Siaw-Lin Chan, Caroline Timothy, Didier A. Depireux, Zubair Ahmed, Jeffrey Wolf, David J. Eisenman, Thomas B. Friedman, Sheikh Riazuddin, Matthew W. Kelley, Scott E. Strome

J Assoc Res Otolaryngol. 2010 Sep; 11(3): 407–418. Published online 2010 Apr 13. doi: 10.1007/s10162-010-0211-x

PMCID:: PMC2914240

Abstract Article PDF–807K

Select item 26131747.

Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation

Chantal M. Longo-Guess, Leona H. Gagnon, Bernd Fritzsch, Kenneth R. Johnson

Mamm Genome. Author manuscript; available in PMC 2009 Jan 1.

Published in final edited form as: Mamm Genome. 2007 Sep; 18(9): 646–656. Published online 2007 Sep 18. doi: 10.1007/s00335-007-9049-x

PMCID:: PMC2613174

Abstract Article PDF–1.0M

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