Results 51 to 60 of about 1,391 (157)
Journal of Education, Health and Sport, 2020 Objective: to evaluate the gene-gene interaction, assess the risks and develop some approximation models of hearing loss / deafness occurrence in children, depending on the genes polymorphism gab junction B2 (GJB2, rs80338939), and interleukin-4 (IL-4 ...
L. P. Sydorchuk, O. M. Iftoda
doaj +1 more source
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort
The Laryngoscope, Volume 134, Issue 8, Page 3832-3838, August 2024.This study assessed the prevalence of genetic variants associated with hearing loss in a large cohort of children. A total of 485 children underwent genetic testing, which identified 923 variants, most of which were of uncertain significance. A genetic cause of hearing loss was found in 15% of children which is lower than typically reported.
Emily R. Wener +7 more
wiley +1 more source
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants
Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.We detected and analysed 362 Chinese non‐syndromic HL patients, of whom 102 patients were assigned a molecular diagnosis with 52 different variants in 22 deafness genes. Twenty of the variants in 15 deafness genes were novel. Our study expanded the spectrum of deafness gene variation.
Panpan Ma +8 more
wiley +1 more source
New, easy and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation
, 2007 : GJB2 (Gap Junction protein beta type 2; Connexin 26, CX26) is known for its contribution to nonsyndromic recessive deafness (NSRD). One particular mutation, 35delG, a deletion of one guanine from a stretch of six leading to a frame shift early in the ...
Van Eyken, E +14 more
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Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
Journal of Cellular and Molecular Medicine, Volume 28, Issue 8, April 2024.Abstract Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages.
Madiha Shadab +6 more
wiley +1 more source
Connecxin 26 Gene Mutations in Non-Syndromic Hearing Loss in Hamadan Province
پزشکی بالینی ابن سینا, 2006 Introduction & Objective : Hearing loss is the most prevalent form of sensory impairment in humans, affecting approximately one in 1000 infants. In more than half of the cases, the deafness is inherited, and about 80% of hereditary deafness transmitted ...
Yousef Shafeghati +7 more
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Investigating GJB2 Mutation in 31 Individuals With Non-syndromic Hearing Loss
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2021 Background and Aim: Non-syndromic hearing loss is a genetically heterogeneous disorder. Mutation in the GJB2 gene is a major cause of non-syndromic hearing loss in numerous countries. This study aimed to evaluate GJB2 mutations in 31 individuals with non-
Pedram Pouryari Biyachal +2 more
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Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow‐up
Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.This study was the largest‐scale neonatal carrier screening for hearing loss genes in Southeast China. It showed an overall prevalence and genotype distribution characteristics of hearing loss genes in newborn population. Our workflow facilitated the application and development of neonatal genetic screening.
Lin Kun +6 more
wiley +1 more source
Variante patogénica c.35delG del gen GJB2 asociada a sordera prelingual no sindrómica [PDF]
Introduction: The pathogenic variant c.35delG of the GJB2 gene is the most frequently observed in all populations, associated with nonsyndromic autosomal recessive prelingual prelingual sensorineural deafness, since 2001 is available in the National ...
Gómez Martínez, Manuel +7 more
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Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
Case Reports in Genetics, 2012 Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment.
Joana Rita Chora +9 more
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