Results 91 to 100 of about 5,521 (170)

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China

Scientific Reports
This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control.
Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu Fan   +6 more
doaj   +1 more source

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients. [PDF]

Balkan J Med Genet, 2022
Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D.   +6 more
europepmc   +1 more source

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  

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome. [PDF]

Ann Dermatol, 2022
Xu Y, Wang M, Huang L, Hu J.
europepmc   +1 more source

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics

Journal of Rehabilitation, 2007
Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different ...
Kimia Kahrizi, Niloufar Bazzaz-Zadegan, Marzieh Mohseni, Noushin Nik-Zaat, Khadijeh Jalalvand, Yaser Riaz-el Hosseini, Yousef Shafeghati, Sanaz Arzhangi, Khalil Javan, Hosein Najmabadi   +9 more
openaire   +1 more source

GJB2 Gene [PDF]

, 2020
openaire   +1 more source

Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness [PDF]

Journal of Medical Screening, 2000
A, Tessa, C, Patrono, F M, Santorelli, A, Giannotti, M C, Digilio, C, Pacifico, F, Presuttari, L, Tieri   +7 more
openaire   +2 more sources

Novel Variant c.148G>T of GJB2 Gene in a 5-Year-Old Child with KID Syndrome. [PDF]

Indian Dermatol Online J, 2020
Caroppo F, Szekely S, Fortina AB.
europepmc   +1 more source

A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.

Iranian Journal of Public Health, 2014
Mutations in the GJB2 gene are the most common known cause of hereditary congenital hearing loss. Rapid genomic DNA extraction (RGDE) method was used for genomic DNA extraction.
Habib Onsori, Mohammad Rahmati, Davood Fazli   +2 more
doaj  

Prevalence of GJB2 gene mutations in nonsyndromic hearing impairments: A systematic review and meta-analysis. [PDF]

Medicine (Baltimore)
Feng R, Mangantig E, Wan Yusoff WSY, Li H, Li X, Abu MN.   +5 more
europepmc   +1 more source