Results 81 to 90 of about 675 (134)

Informativeness of D7S2456 marker for molecular diagnosis of autosomal recessive non syndromic hearing loss in five Iranian ethnic groups

مجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: SLC26A4 gene mutations after GJB2 mutations are the second currently identifiable genetic cause of autosomal recessive non syndromic hearing loss (ARNSHL) which currently is used in molecular diagnosis of ARNSHL.
Mojtabavi Naeini M, Vallian Broujeni S, Hashemzadeh Chaleshtori M   +2 more
doaj  

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. [PDF]

Hum Genomics, 2023
Asaad M, Mahfood M, Al Mutery A, Tlili A.   +3 more
europepmc   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss. [PDF]

J Clin Lab Anal
Katiraei SHF, Gholami M, Soosanabadi M, Entezam M, Dastgheib SA.   +4 more
europepmc   +1 more source

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. [PDF]

Genes (Basel), 2022
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R.   +13 more
europepmc   +1 more source

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics. [PDF]

Genes (Basel)
Kutija Fučkar I, Zajc Petranović M, Martinović Klarić I, Peričić Salihović M, Barać Lauc L.   +4 more
europepmc   +1 more source

Novel splice-site variants in <i>TMPRSS3</i> impair hearing via exon skipping and abrogated protease activity. [PDF]

Front Genet
Wang X, Wang WQ, Huang SS, Wang X, Hu LM, Liu X, Wang QQ, Wang ZD, Xu JC, Yuan YY, Gao X.   +10 more
europepmc   +1 more source

Simultaneous MT-RNR1 and MYO15A Mutations in a Family with Non-Syndromic Hearing Loss. [PDF]

J Int Adv Otol
Chen Y, Yang R, Chen Y, Zhang T, Ma J.
europepmc   +1 more source

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family. [PDF]

Front Genet, 2023
Ji H, Zhang L, Hussain HMJ, Aftab A, Yu H, Xiao M.   +5 more
europepmc   +1 more source

Identification and phased de novo mutation of the EPS8L2 gene in a patient with progressive hearing loss: A case report. [PDF]

Medicine (Baltimore)
Gan H, Lu Y, Qu S, Lu L, Xu H, Fan M, Tang J, Mo J, Chen R, Tang F.   +9 more
europepmc   +1 more source

Identification of alternative splicing in WFS1 associated with low-frequency hearing loss in the common marmoset. [PDF]

HGG Adv
Yokota S, Yoshimura H, Nishio SY, Sasaki E, Mukasa K, Usami SI, Takumi Y.   +6 more
europepmc   +1 more source