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Items: 13

Select item 33356131.

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

Kwanghyuk Lee, Mohammad Amin ud Din, Muhammad Ansar, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

Genet Res Int. 2011; 2011: 294675. Published online 2011 Nov 1. doi: 10.4061/2011/294675

PMCID:: PMC3335613

Article PDF–1.3M

Select item 28303072.

miRNA Mutations are Not a Common Cause of Deafness

Michael S. Hildebrand, P. Dane Witmer, Shunbin Xu, Stephen S. Newton, Kimia Kahrizi, Hossein Najmabadi, David Valle, Richard J.H. Smith

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 646–652. doi: 10.1002/ajmg.a.33299

PMCID:: PMC2830307

Article PDF–258K

Select item 72203923.

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4

Masato Fujioka, Takumi Akiyama, Makoto Hosoya, Kayoko Kikuchi, Yuto Fujiki, Yasuko Saito, Keisuke Yoshihama, Hiroyuki Ozawa, Keita Tsukada, Shin-ya Nishio, Shin-ichi Usami, Tatsuo Matsunaga, Tomonobu Hasegawa, Yasunori Sato, Kaoru Ogawa

Medicine (Baltimore) 2020 May; 99(19): e19763. Published online 2020 May 8. doi: 10.1097/MD.0000000000019763

PMCID:: PMC7220392

Article PDF–360K

Select item 46540564.

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients

Pranav Dinesh Mathur, Sarath Vijayakumar, Deepti Vashist, Sherri M. Jones, Timothy A. Jones, Jun Yang

Hum Mol Genet. 2015 Dec 15; 24(24): 7017–7030. Published online 2015 Sep 29. doi: 10.1093/hmg/ddv403

PMCID:: PMC4654056

Article PDF–1.6M

Select item 45996785.

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31

Pranav Dinesh Mathur, Junhuang Zou, Tihua Zheng, Ali Almishaal, Yong Wang, Qian Chen, Le Wang, Deepti Vashist, Steve Brown, Albert Park, Jun Yang

Hum Mol Genet. 2015 Nov 1; 24(21): 6213–6228. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv339

PMCID:: PMC4599678

Article PDF–2.0M

Select item 43838626.

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

M'hamed Grati, Imen Chakchouk, Qi Ma, Mariem Bensaid, Alexandra Desmidt, Nouha Turki, Denise Yan, Aissette Baanannou, Rahul Mittal, Nabil Driss, Susan Blanton, Amjad Farooq, Zhongmin Lu, Xue Zhong Liu, Saber Masmoudi

Hum Mol Genet. 2015 May 1; 24(9): 2482–2491. Published online 2015 Jan 18. doi: 10.1093/hmg/ddv009

PMCID:: PMC4383862

Article PDF–1.1M

Select item 42912427.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Eva L. Morozko, Ayako Nishio, Neil J. Ingham, Rashmi Chandra, Tracy Fitzgerald, Elisa Martelletti, Guntram Borck, Elizabeth Wilson, Gavin P. Riordan, Philine Wangemann, Andrew Forge, Karen P. Steel, Rodger A. Liddle, Thomas B. Friedman, Inna A. Belyantseva

Hum Mol Genet. 2015 Feb 1; 24(3): 609–624. Published online 2014 Sep 12. doi: 10.1093/hmg/ddu474

PMCID:: PMC4291242

Article PDF–1.8M

Select item 101386598.

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

Margit Pál, Dóra Nagy, Alexandra Neller, Katalin Farkas, Dóra Leprán-Török, Nikoletta Nagy, Dalma Füstös, Roland Nagy, Adrienne Németh, Judit Szilvássy, László Rovó, József Géza Kiss, Márta Széll

Int J Mol Sci. 2023 Apr; 24(8): 7401. Published online 2023 Apr 17. doi: 10.3390/ijms24087401

PMCID:: PMC10138659

Article PDF–3.4M

Select item 52810599.

Functional Characterization of a Novel Loss-of-Function Mutation of PRPS1 related to Early-Onset Progressive Nonsyndromic Hearing Loss in Koreans (DFNX1): Potential Implications on Future Therapeutic Intervention

So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi

J Gene Med. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: J Gene Med. 2016 Nov; 18(11-12): 353–358. doi: 10.1002/jgm.2935

PMCID:: PMC5281059

Article PDF–356K

Select item 415037610.

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Guney Bademci, Oscar Diaz-Horta, Shengru Guo, Duygu Duman, Derek Van Booven, Joseph Foster II, Filiz Basak Cengiz, Susan Blanton, Mustafa Tekin

Genet Test Mol Biomarkers. 2014 Sep 1; 18(9): 658–661. doi: 10.1089/gtmb.2014.0121

PMCID:: PMC4150376

Article PDF–263K

Select item 291754211.

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan

Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal

Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.

Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905

PMCID:: PMC2917542

Article PDF–635K

Select item 191507712.

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

B. Bonné-Tamir, A. L. DeStefano, C. E. Briggs, R. Adair, B. Franklyn, S. Weiss, M. Korostishevsky, M. Frydman, C. T. Baldwin, L. A. Farrer

Am J Hum Genet. 1996 Jun; 58(6): 1254–1259.

PMCID:: PMC1915077

Summary Page Browse PDF–925K

Select item 171244013.

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems

Am J Hum Genet. 1997 May; 60(5): 1168–1173.