Results 11 to 20 of about 514 (125)

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]

Iranian Journal of Public Health, 2011
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syn­dromic HL (ARNSHL) is the most common type of hereditary HL.
MA Tabatabaiefar , F Alasti, M Montazer Zohour, L Shariati, E Farrokhi , DD Farhud , GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori   +8 more
doaj   +7 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

A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2009
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim, Dae Gun Song, Jae Woong Bae, Soo-Young Choi, Un-Kyung Kim, Young Jun Choi, Kyu Yup Lee, Sang Heun Lee, Jung Rae Lee   +8 more
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

Haplotype Analysis of Seven Non-Syndromeic Autosomal Recessive Hearing Loss Loci in Iranian Families

Journal of Rehabilitation, 2010
Objective: Hearing impairment is the most frequent sensorineural defect in 2 forms, syndromic and non–syndromic. The aim of this study is haplotype analysis of seven loci of non–syndromic autosomal recessive hearing loss in Iranian families. Materials &
Ramak Badr, Bahareh Shoja-Saffar, Niloofar Bazzaz-Zadegan, Khadijeh Jalalvand, Kimia Kahrizi, Hossein Najm-Abadi   +5 more
doaj   +1 more source

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management. [PDF]

Genes (Basel), 2022
SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA).
Tawalbeh M, Aburizeg D, Abu Alragheb BO, Alaqrabawi WS, Dardas Z, Srour L, Altarayra BH, Zayed AA, El Omari Z, Azab B.   +9 more
europepmc   +2 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

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. [PDF]

Mol Syndromol, 2022
Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly.
Cinleti T, Yılmaz Uzman C, Akyol Ş, Tüfekçi Ö, Erçal MD, Giray Bozkaya Ö.   +5 more
europepmc   +2 more sources

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies [PDF]

Int J Mol Sci, 2022
Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study, phenotype analyses, including clinical data collection, computed tomography (CT), and ...
Klarov LA, Pshennikova VG, Romanov GP, Cherdonova AM, Solovyev AV, Teryutin FM, Luginov NV, Kotlyarov PM, Barashkov NA.   +8 more
europepmc   +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