PMC Articles for MedGen (Select 400602) - PMC

Select item 17359251.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

W Chen, K Kahrizi, N Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, R Smith

J Med Genet. 2005 Oct; 42(10): e61. doi: 10.1136/jmg.2005.032615

PMCID:: PMC1735925

Select item 83913422.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Article PDF–1.2M

Select item 47076543.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Imen Chakchouk, M’hamed Grati, Guney Bademci, Mariem Bensaid, Qi Ma, Amine Chakroun, Joseph Foster, II, Denise Yan, Duygu Duman, Oscar Diaz-Horta, Abdelmonem Ghorbel, Rahul Mittal, Amjad Farooq, Mustafa Tekin, Saber Masmoudi, Xue Zhong Liu

Mol Genet Genomics. Author manuscript; available in PMC 2016 Jan 11.

Published in final edited form as: Mol Genet Genomics. 2015 Aug; 290(4): 1327–1334. Published online 2015 Jan 30. doi: 10.1007/s00438-015-0995-9

PMCID:: PMC4707654

Article PDF–1.1M

Select item 42209134.

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

Jiandong Zhao, Yongyi Yuan, Shasha Huang, Bangqing Huang, Jing Cheng, Dongyang Kang, Guojian Wang, Dongyi Han, Pu Dai

PLoS One. 2014; 9(11): e108134. Published online 2014 Nov 5. doi: 10.1371/journal.pone.0108134

PMCID:: PMC4220913

Article PDF–221K

Select item 30143715.

Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

Zubair M. Ahmed, Rizwan Yousaf, Byung Cheon Lee, Shaheen N. Khan, Sue Lee, Kwanghyuk Lee, Tayyab Husnain, Atteeq Ur Rehman, Sarah Bonneux, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal, Vadim N. Gladyshev, Inna A. Belyantseva, Guy Van Camp, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin

Am J Hum Genet. 2011 Jan 7; 88(1): 19–29. doi: 10.1016/j.ajhg.2010.11.010

PMCID:: PMC3014371

Article PDF–1.5M

Select item 29175426.

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

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