Results 1 to 10 of about 244,526 (128)

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   +8 more sources

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   +5 more sources

Genetics of Nonsyndromic Congenital Hearing Loss [PDF]

Scientifica, 2016
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are ...
Oguz Kadir Egilmez, M. Tayyar Kalcioglu
doaj   +3 more sources

Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper [PDF]

Advanced Biomedical Research, 2018
Background: Hearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL.
Mohammad Reza Pourreza, Hannane Mohammadi, Ladan Sadeghian, Samira Asgharzadeh, Mohammadreza Sehhati, Mohammad Amin Tabatabaiefar   +5 more
doaj   +2 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 [PDF]

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

Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree [PDF]

Journal of Cellular and Molecular Medicine, Volume 28, Issue 1, January 2024.
Abstract Nonsyndromic hearing loss (NSHL) is a genetically diverse, highly heterogeneous condition characterised by deafness, and Gasdermin E (GSDME) variants have been identified as directly inducing autosomal dominant NSHL. While many NSHL cases associated with GSDME involve the skipping of exon 8, there is another, less understood pathogenic ...
Jingliang Cheng, Ting Li, Qi Tan, Jiewen Fu, Lianmei Zhang, Luquan Yang, Baixu Zhou, Lisha Yang, Shangyi Fu, Alora Grace Linehan, Junjiang Fu   +10 more
wiley   +2 more sources

Targeted Next‐Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis [PDF]

BioMed Research International, Volume 2018, Issue 1, 2018., 2018
Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis.
Haiqiong Shang, Denise Yan, Naeimeh Tayebi, Kolsoum Saeidi, Afsaneh Sahebalzamani, Yong Feng, Susan Blanton, Xuezhong Liu, Domenico Coviello   +8 more
wiley   +2 more sources

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

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   +1 more source

How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us

Journal of Cellular and Molecular Medicine, Volume 25, Issue 13, Page 5869-5883, July 2021., 2021
Abstract Different cellular mechanisms contribute to the hearing sense, so it is obvious that any disruption in such processes leads to hearing impairment that greatly influences the global economy and quality of life of the patients and their relatives.
Mohammad Farhadi, Ehsan Razmara, Maryam Balali, Yeganeh Hajabbas Farshchi, Masoumeh Falah   +4 more
wiley   +1 more source

Congenital Deafness and Recent Advances Towards Restoring Hearing Loss

Current Protocols, Volume 1, Issue 3, March 2021., 2021
Abstract Congenital hearing loss is the most common birth defect, estimated to affect 2‐3 in every 1000 births. Currently there is no cure for hearing loss. Treatment options are limited to hearing aids for mild and moderate cases, and cochlear implants for severe and profound hearing loss. Here we provide a literature overview of the environmental and
Justine M. Renauld, Martin L. Basch
wiley   +1 more source