Results 51 to 60 of about 675 (134)

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

BMC Medical Genomics, 2021
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss.
Hossein Fahimi, Samira Behroozi, Sadaf Noavar, Farshid Parvini   +3 more
doaj   +1 more source

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

, 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.
Shahmohammadi, Azin, Montazer Haghighi, Mahdi, Alibakhshi, Reza, Tabatabiefar, Mohammad Amin   +3 more
core   +1 more source

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Iranian Journal of Public Health, 2016
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity.
Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH   +4 more
doaj  

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

BMC Medical Genomics, 2022
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T > C (p ...
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai   +14 more
doaj   +1 more source

A capture‐based method of prenatal cell‐free DNA screening for autosomal recessive non‐syndromic hearing loss

Prenatal Diagnosis, Volume 44, Issue 9, Page 1043-1052, August 2024.
Abstract Objective This study aimed to develop and validate a prenatal cell‐free DNA (cfDNA) screening method that uses capture‐based enrichment to genotype fetal autosomal recessive disorders. This method was applied in pregnancies at high risk of autosomal recessive non‐syndromic hearing loss (ARNSHL) to assess its accuracy and effectiveness ...
Qian Mu, Ling Bai, Bing Xu, Huawen Du, Zhaoyun Jiang, Shasha Huang, Bo Gao, Qixi Wu, Hanqing Zhao, Pu Dai, Yi Jiang   +10 more
wiley   +1 more source

"Deafness –Associated Connexin 26 Gene (GJB2) Mutations in Iranian Population" [PDF]

Iranian Journal of Public Health, 2002
Mutations in the GJB2 gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (ARNSHL) in many populations.
M Hashemzadeh Chaleshtori, DD Farhud, R Taylor, V Hadavi, MA Patton, AR Afzal   +5 more
doaj   +1 more source

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  

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran. [PDF]

, 2019
BACKGROUND AND OBJECTIVES: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed
Koohiyan, Mahbobeh, Shirzad, Maryam, Farrokhi, Effat, Azadegan-Dehkordi, Fatemeh, Hashemzadeh-Chaleshtori, Morteza, Yazdanpanahi, Nasrin, Tabatabaiefar, Mohammad Amin, Karbasi, Gelareh, Bahrami, Tayyebe   +8 more
core   +4 more sources

Genetic linkage analysis of DFNB22 in families with autosomal recessive non-syndromic hearing loss in Khuzestan province [PDF]

, 2019
Background and aims: Hearing loss (HL) is the most common sensorineural disorder affecting 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL), which is the most common cause of severe HL, is caused by mutations in more than 80 ...
Hashemzadeh Chaleshtori, Morteza, Tabatabaiefar, Mohammad Amin, Sadeghian, Ladan   +2 more
core   +1 more source

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

BMC Medical Genetics, 2020
Background Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional ...
Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade   +5 more
doaj   +1 more source