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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 36"
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Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F. Ramzan K, et al. Am J Med Genet B Neuropsychiatr Genet. 2020 Apr;183(3):172-180. doi: 10.1002/ajmg.b.32774. Epub 2019 Dec 19. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 31854501
The precise function of TMC1 protein in the inner ear is unknown, although it is predicted to be involved in functional maturation of cochlear hair cells. TMC1 mutations result in autosomal recessive (DFNB7/11) and sometimes dominant (DFNA36) nonsyndromic HL. …
The precise function of TMC1 protein in the inner ear is unknown, although it is predicted to be involved in functional maturation of …
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G. Wei Q, et al. J Transl Med. 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. J Transl Med. 2014. PMID: 25388789 Free PMC article.
RESULTS: Of the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal dominant nonsyndromic hearing loss. These included one novel in-frame indel mutation, three novel missense mutations and …
RESULTS: Of the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal d …
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ. Verhoeven K, et al. Am J Hum Genet. 1997 May;60(5):1168-73. Am J Hum Genet. 1997. PMID: 9150164 Free PMC article.
We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual onset and a nonprogressive course in most patients. We found LOD scores >6 with markers on chromosome 11q. Analysis of key recombinants map …
We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual onset and …
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F. Lin Y, et al. J Int Adv Otol. 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. J Int Adv Otol. 2019. PMID: 31347505 Free PMC article.
Of the 151 screened carriers, 65 (10.25%) patients harbored homozygous or homoplasmy mutated genes associated with autosomal recessive hearing loss; 36 (5.68%) patients with mutant alleles were homozygous for the GJB2 c.235delC mutation and 27 (4.26%) were he …
Of the 151 screened carriers, 65 (10.25%) patients harbored homozygous or homoplasmy mutated genes associated with autosomal reces …