PMC Articles for MedGen (Select 341854) - PMC

Select item 29201381.

DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

Muhammad Ansar, Maria H. Chahrour, Mohammad Amin ud Din, Muhammad Arshad, Sayedul Haque, Thanh L. Pham, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Hum Hered. Author manuscript; available in PMC 2010 Aug 11.

Published in final edited form as: Hum Hered. 2004; 57(4): 195–199. doi: 10.1159/000081446

PMCID:: PMC2920138

Article PDF–617K

Select item 101285592.

前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究

赵质彬, 祝园平, 符一飞, 姜鸿彦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002

PMCID:: PMC10128559

Article PDF–763K

Select item 97018743.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu

J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708

PMCID:: PMC9701874

Article PDF–2.0M

Select item 88116754.

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji

J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152

PMCID:: PMC8811675

Article PDF–613K

Select item 57359365.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Article PDF–1.1M

Select item 35012596.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed

Nat Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426

PMCID:: PMC3501259

Article PDF–1.9M

Select item 45673927.

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 40307828.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Regie Lyn P. Santos-Cortez, Kwanghyuk Lee, Arnaud P. Giese, Muhammad Ansar, Muhammad Amin-Ud-Din, Kira Rehn, Xin Wang, Abdul Aziz, Ilene Chiu, Raja Hussain Ali, Joshua D. Smith, University of Washington Center for Mendelian Genomics, Jay Shendure, Michael Bamshad, Deborah A. Nickerson, Zubair M. Ahmed, Wasim Ahmad, Saima Riazuddin, Suzanne M. Leal

Hum Mol Genet. 2014 Jun 15; 23(12): 3289–3298. Published online 2014 Jan 29. doi: 10.1093/hmg/ddu042

PMCID:: PMC4030782

Article PDF–1.5M

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