Results 11 to 20 of about 675 (134)

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations [PDF]

Iranian Journal of Public Health, 2019
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global public health concerns, is marked by a high degree of genetic heterogeneity. The role of GJB2, as the most common cause of ARNSHL, is only
Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR   +7 more
doaj   +3 more sources

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

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families

Frontiers in Genetics, 2019
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the ...
Shushan Sang, Shushan Sang, Jie Ling, Jie Ling, Jie Ling, Xuezhong Liu, Xuezhong Liu, Xuezhong Liu, Lingyun Mei, Lingyun Mei, Xinzhang Cai, Xinzhang Cai, Taoxi Li, Taoxi Li, Taoxi Li, Wu Li, Wu Li, Meng Li, Meng Li, Jie Wen, Jie Wen, Xianlin Liu, Xianlin Liu, Jing Liu, Jing Liu, Yalan Liu, Yalan Liu, Hongsheng Chen, Hongsheng Chen, Chufeng He, Chufeng He, Yong Feng, Yong Feng, Yong Feng, Yong Feng   +34 more
doaj   +2 more sources

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Cell Journal, 2018
Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL.
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Saeed Tizno, Marziyeh Najafvand Zadeh   +4 more
doaj   +2 more sources

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Molecular Genetics & Genomic Medicine, 2020
Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL).
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi   +8 more
doaj   +2 more sources

Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2017
Background: Hearing loss (HL) is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of hereditary deafness ...
Mahtab Khosrofar, Mohammad Reza Pourreza, Samira Asgharzadeh, Parisa Tahmasebi, Elahe Ali Asgari, Reza Ghasemikhah, Nader Saki, Javad Mohammadi-asl, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar   +9 more
doaj   +3 more sources

Population Data on D7S2425 Marker in Five Ethnic Groups of the Iranian Population: A Highly Informative Marker for Molecular Diagnosis of ARNSHL [PDF]

Journal of Kerman University of Medical Sciences, 2014
Background & Aims: SLC26A4 gene mutations are the second identifiable genetic cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) after GJB2 mutations and are currently investigated in molecular diagnosis.In databases, several potential STR ...
Marjan Mojtabavi Naeini, Sadeq Vallian Boroujeni, Morteza Hashemzadeh Chaleshtori   +2 more
doaj   +4 more sources

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

Journal of Research in Medical Sciences, 2017
Background: We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2) and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL) in South of Iran. Materials and Methods: A total of 36 large
Masoud Akbarzadeh Laleh, Marzieh Naseri, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari, 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

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss. [PDF]

J Clin Lab Anal, 2022
We identified three compound heterozygous mutations in MYO15A that cause deafness, including two novel mutations, c.6804G > A (p.M2268I) and c.6188_6190delinsGTCA (p.F2063Cfs*60). The current findings expand the MYO15A pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.
Wang L, Zhang Y, Xue Q, Huang P, Liu X.
europepmc   +2 more sources