About 158 results

ALLMedicine™ DFNB1 Center

Research & Reviews  62 results

Investigation of the hearing levels of siblings affected by a single GJB2 variant: Poss...
International Journal of Pediatric Otorhinolaryngology; Hosoya M, Fujioka M et. al.

Jul 23rd, 2021 - Variants in GJB2 can cause autosomal recessive deafness (DFNB1). There is evidence for genotype-phenotype correlations of GJB2 variants; however, several genotypes can cause varying levels of hearing loss likely attributable to differences in gene...

Functional Polymorphism of MMP9 and BDNF as Potential Biomarker of Auditory Neuroplasti...
Trends in Hearing; Matusiak M, Oziębło D et. al.

Apr 1st, 2021 - Genetic biomarkers of neuroplasticity in deaf children treated with cochlear implantation (CI) might facilitate their clinical management, especially giving them better chances of developing proficient spoken language. We investigated whether carr...

Is it time to report carrier state for recessive disorders in every microarray analysis...
European Journal of Human Genetics : EJHG; Maya I, Basel-Salmon L et. al.

Mar 24th, 2021 - This study aimed to examine the implications of reporting heterozygous losses of recessive genes in Chromosomal Microarray Analysis (CMA), based on the incidence of microdeletions of three common hearing impairment genes in the local cohort and th...

Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations.
Auris, Nasus, Larynx; Fujioka M, Hosoya M et. al.

Jun 20th, 2020 - Hearing loss caused by GJB2 mutations is inherited in an autosomal recessive manner (DFNB1); thus siblings of an affected child have a 25% chance of also being affected. Hearing loss among subsequent siblings carrying the same GJB2 mutation is a c...

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with ...
Molecular Genetics & Genomic Medicine; Pandya A, O'Brien A et. al.

Feb 19th, 2020 - Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to be ...

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News  1 results

Universal carrier screening
Family Practice News;

Oct 31st, 2013 - Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lemli-Opitz syn.

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