PubMed for id: 337623

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M. Bademci G, et al. Genet Med. 2016 Apr;18(4):364-71. doi: 10.1038/gim.2015.89. Epub 2015 Jul 30. Genet Med. 2016. PMID: 26226137 Free PMC article.

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D, Tekin M. Duman D, et al. Front Biosci (Landmark Ed). 2012 Jun 1;17(6):2213-36. doi: 10.2741/4046. Front Biosci (Landmark Ed). 2012. PMID: 22652773 Free PMC article. Review.

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. Ain Q, et al. Hum Genet. 2007 Dec;122(5):445-50. doi: 10.1007/s00439-007-0418-z. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690910

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Khan SY, et al. Hum Genet. 2007 Feb;120(6):789-93. doi: 10.1007/s00439-006-0275-1. Epub 2006 Oct 26. Hum Genet. 2007. PMID: 17066295

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.

Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. Mir A, et al. Am J Med Genet A. 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. Am J Med Genet A. 2005. PMID: 15637723 Free PMC article.

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonné-Tamir B. Berry A, et al. Genomics. 2000 Aug 15;68(1):22-9. doi: 10.1006/geno.2000.6253. Genomics. 2000. PMID: 10950923

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient.

Qin Y, Ma Y, Zeng Z, Zhong Z, Qi Y, Liu Y. Qin Y, et al. J Clin Lab Anal. 2023 Apr;37(7):e24886. doi: 10.1002/jcla.24886. Epub 2023 Apr 27. J Clin Lab Anal. 2023. PMID: 37106574 Free PMC article.

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

Al-Janabi AM, Ahmmed HS, Al-Khafaji SM. Al-Janabi AM, et al. J Med Life. 2021 Nov-Dec;14(6):841-846. doi: 10.25122/jml-2021-0152. J Med Life. 2021. PMID: 35126756 Free PMC article.

Single gene variants causing deafness in Asian Indians.

Panigrahi I, Kumari D, Anil Kumar BN. Panigrahi I, et al. J Genet. 2021;100:35. J Genet. 2021. PMID: 34238775 Free article.

Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.

Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM. Yu S, et al. Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110715. doi: 10.1016/j.ijporl.2021.110715. Epub 2021 Apr 20. Int J Pediatr Otorhinolaryngol. 2021. PMID: 33892339 Review.

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