Results 11 to 20 of about 683 (138)

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct [PDF]

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +5 more sources

Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia) [PDF]

Вавиловский журнал генетики и селекции
Pathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world.
V. Yu. Danilchenko, M. V. Zytsar, E. A. Panina, K. E. Orishchenko, O. L. Posukh   +4 more
doaj   +2 more sources

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct [PDF]

Molecular Medicine
Background The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli, Raffaella Liuni, Rapolas Jamontas, Paola Tesolin, Anna Morgan, Giorgia Girotto, Sebastian Roesch, Silvia Dossena   +7 more
doaj   +2 more sources

Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations

Iranian Journal of Public Health, 2017
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity.
Marzieh NASERI, Masoud AKBARZADEHLALEH, Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Leila SHAMS, Azim NEJATIZADEH   +7 more
doaj   +2 more sources

Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss [PDF]

Journal of Sciences, Islamic Republic of Iran, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
M.R. Noori-Daloii
doaj   +2 more sources

Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population [PDF]

Journal of Sciences, Islamic Republic of Iran, 2017
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with ...
T. Bahrami, N. Jalilian, G. Karbasi, M. R. Noori- Daloii   +3 more
doaj   +2 more sources

ACQUEDOTTO VESTIBOLARE ALLARGATO: S. DI PENDRED, DFNB4, SINDROME DELL’ACQUEDOTTO VESTIBOLARE ALLARGATO [PDF]

, 2010
L’acquedotto vestibolare è un canale osseo che si estende dalla parete mediale del vestibolo alla faccia cerebellare della piramide petrosa, contiene vasi e una componente del labirinto membranoso dell’orecchio interno, il dotto endolinfatico che si apre nel sacco endolinfatico.
Berto, Anna
openaire   +3 more sources

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants. [PDF]

Otolaryngol Head Neck Surg
Abstract Objective The study aimed to describe the auditory phenotype of patients with bilateral enlarged vestibular aqueduct, including benefits of cochlear implantation, and to look for genotype‐phenotype correlation. Study Design Retrospective single‐center study. Setting Tertiary adult reference center.
Vigouroux A, Glemain B, Torres R, Jonard L, Loundon N, Ferrary E, Mosnier I, Daoudi H, Marlin S, Lahlou G.   +9 more
europepmc   +2 more sources

Causas geneticas de las sorderas DFNB4: el sindrome de pendred y la sordera no sindromica eva [PDF]

, 2009
Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Dpto. de Bioquimica. Fecha de lectura: 3 de Septiembre de 2009.
Pera Rojas, Alejandra
openaire   +2 more sources

Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct. [PDF]

Hum Mutat
Enlarged vestibular aqueduct (EVA) is a frequently occurring inner ear malformation that associates with sensorineural hearing loss (SNHL), with SLC26A4 being the responsible gene. Based on multiplex PCR enrichment and sequencing of the exonic and flanking regions of the SLC26A4 gene, we developed a panel specifically for EVA and found that up to 95 ...
Tian Y, Liu M, Lu Y, Zhao X, Yan Z, Sun Y, Ma J, Tang W, Wang H, Xu H.   +9 more
europepmc   +2 more sources