Results 131 to 138 of about 683 (138)

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

Human Molecular Genetics, 1995
Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a genetic cause. Some forms of inherited deafness are syndromic and affected individuals have a specific pattern of additional features while in other families the deafness is non-syndromic and there is no other recognizable ...
C T, Baldwin, S, Weiss, L A, Farrer, A L, De Stefano, R, Adair, B, Franklyn, K K, Kidd, M, Korostishevsky, B, Bonné-Tamir   +8 more
openaire   +2 more sources

CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model

Gene Therapy
SLC26A4 encodes pendrin, a crucial anion exchanger essential for maintaining hearing function. Mutations in SLC26A4, including the prevalent c.919-2 A > G splice-site mutation among East Asian individuals, can disrupt inner ear electrolyte balance, leading to syndromic and non-syndromic hearing loss, such as Pendred syndrome and DFNB4.
Chun-Ying Huang, Yi-Hsiu Tsai, Yi-Fen Cheng, Peng-Yu Wu, Yu-Chi Chuang, Po-Yuan Huang, Jai-Shin Liu, Chen-Chi Wu, Yen-Fu Cheng   +8 more
openaire   +2 more sources

Genetic linkage Analysis of DFNB1)GJB6 (and DFNB4 (SLC26A4) loci with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) in Kermanshah, a western province of Iran

Archives of Medical Laboratory Sciences, 2017
Background: Hearing Loss (HL) is the most common sensory disorder in human with an incidence of about one in 650 alive neonates. It is estimated that at least 50% of pre-lingual HL has a genetic basis. Almost 70% of genetic HL are non-syndromic (NSHL) and of NSHL cases, the autosomal recessive form (ARNSHL) comprises about 80%.
Shahmohammadi, Azin, Tabatabiefar, Mohammad Amin, Montazer Haghighi, Mahdi, Alibakhshi, Reza   +3 more
openaire   +1 more source

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Audiology & neuro-otology, 2010
Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome. However, in some affected families, only 1 or 0 mutated allele can be identified, as well as no clear correlation between SLC26A4 genotypes and clinical phenotypes, hampering the accuracy of genetic counseling.
Chen-Chi, Wu, Ying-Chang, Lu, Pei-Jer, Chen, Po-Lin, Yeh, Yi-Nin, Su, Wuh-Liang, Hwu, Chuan-Jen, Hsu   +6 more
openaire   +1 more source

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Clinical Genetics, 2013
Rendtorff, Nanna Dahl, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, Ec, Nickelsen, Laa, Tümer, Z, Fagerheim, T, Wetke, Randi, Tranebjaerg, L   +10 more
openaire   +3 more sources

The <i>PDS</i> Gene, Pendred Syndrome and Non-Syndromic Deafness (DFNB4)

2000
E.R. Wilcox, L.A. Everett, X.C. Li, A.K. Lalwani, E.D. Green   +4 more
openaire   +1 more source

The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.

Advances in oto-rhino-laryngology, 2000
E R, Wilcox, L A, Everett, X C, Li, A K, Lalwani, E D, Green   +4 more
openaire   +1 more source

Pendred's syndrome and non‐syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings

Clinical Genetics, 2005
openaire   +1 more source