Results 21 to 30 of about 1,391 (157)

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

, 2000
Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive trait. Recently, it has been demonstrated that connexin 26 (GJB2) gene is a major gene for congenital sensorineural deafness ...
Paolo Fortina, Paolo Gasparini, Raquel Rabionet, Salvatore Melchionda, K. Brøndum Nielsen, L. Zelante, Leopoldo Zelante, X. Estivill, FORTINA, PAOLO, Xavier Estivill, P. Gasparini, M. Pisano, Eneli Oitmaa, Guido Barbujani, Michael Petersen, Andres Metspalu, E. Oitmaa, A. Metspalu, G. Barbujani, M. Petersen, Marina Pisano, R. Rabionet, Karen Brøndum-Nielsen, S. Melchionda   +23 more
core   +2 more sources

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene: Influence of modifiers on 35delG/35delG phenotype [PDF]

, 2009
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the ...
Caria, Helena, Van Camp, Guy, Hilgert, Nele   +2 more
core   +1 more source

Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province. [PDF]

Mol Genet Genomic Med
Genetic screening by multicolor melting curve analysis combined with hearing screening is profit to diagnosis of hearing loss of neonates. Abstract Background Genetic disorders ascribe to half of cases of congenital hearing loss. Hearing screening is significant in detecting hearing loss (HL) but weak at diagnosis, which can be complemented by genetic ...
Liu Y, Zhang Y, Wang J, Song S, Wang H, Meng Q, Zhan Y, Xu Y, Sun L.   +8 more
europepmc   +2 more sources

Prevalence of 35delG mutation in GJB2 gene in the Moldovan population [PDF]

, 2020
Laboratory of Genetics, Center for Drug Research, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova, Grigore T. Popa University of Medicine and Pharmacy, Iasi, Romania.
Curocichin, Ghenadie, Parii, Sergiu, Buza, Anastasia, Butovscaia, Cristina, Radulescu, Luminita, Galea-Abdusa, Daniela   +5 more
core   +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   +2 more sources

Strong Linkage Disequilibrium for the Frequent GJB2 35delG Mutation in the Greek Population

, 2008
: Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations
Economides, John, Van Camp, G, Kokotas, H, Petersen, MB, Economides, J, Kokotas, Haris, Giannoulia-Karantana, Aglaia, Ferekidou, Elisabeth, Pomoni, S, Korres, Stavros, Van Laer, Lut, Eleftheriades, N, Iliadou, Vassiliki, Pampanos, A, Grigoriadou, Maria, Petersen, Michael B., Giannoulia-Karantana, A, Iliadou, V, Grigoriadou, M, Korres, S, Ferekidou, E, Pomoni, Stella, Eleftheriades, Nikos, Pampanos, Andreas, Van Camp, Guy   +24 more
core   +3 more sources

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

İstanbul Tıp Fakültesi Dergisi, 2022
Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life.
Çağrı Güleç, Ayça Dilruba Aslanger, Volkan Karaman, Bernd Wollnik, Fatih Tepgeç, Hülya Kayserili Karabey, Zehra Oya Uyguner   +6 more
doaj   +1 more source

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus. [PDF]

PLoS ONE, 2012
The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic
Nina Danilenko, Elena Merkulava, Marina Siniauskaya, Olga Olejnik, Anastasia Levaya-Smaliak, Alena Kushniarevich, Andrey Shymkevich, Oleg Davydenko   +7 more
doaj   +1 more source

Analysis of GJB2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Turkish Archives of Otorhinolaryngology, 2014
Objective:This study was performed to investigate the GJB2 (connexin 26) gene mutations that are the most frequent cause of sensorineural deafness in patients with congenital non-syndromic sensorineural hearing loss in our region.Methods:Sixty patients ...
Emin Kaskalan, Ebru Etem Önalan, İrfan Kaygusuz, Turgut Karlıdağ, Erol Keleş, Abdulvahap Akyiğit, Şinasi Yalçın   +6 more
doaj   +1 more source