Results 1 to 10 of about 1,391 (157)

Unusual phenotype in 35delG mutation: a case report [PDF]

Journal of Medical Case Reports
Background Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the primary causes
Cem Yeral, Lutfu Seneldir, Arzu Hediye Karakoc, Aleyna Sap, Oguz Yilmaz   +4 more
doaj   +3 more sources

Correlation between audiometric data and the 35delG mutation in ten patients [PDF]

Brazilian Journal of Otorhinolaryngology, 2007
Summary: Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafness genesis, especially the 35delG, but there are still only a few studies that describe the audiometric characteristics of patients with these ...
José Vitor Maniglia, Vânia Belintani Piatto, Edi Lúcia Sartorato   +2 more
exaly   +4 more sources

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

BMC Medical Genetics, 2018
Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35delG prevalence
Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh   +10 more
doaj   +2 more sources

Perspectivas para triagem da deficiência auditiva genética: rastreamento da mutação 35delG em neonatos Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population

Jornal de Pediatria, 2005
OBJETIVO: Investigar a prevalência da mutação 35delG em amostra de recém-nascidos, com teste molecular específico; avaliar as perspectivas para a triagem neonatal genética para a deficiência auditiva.
Vânia B. Piatto, Camila A. Oliveira, Fabiana Alexandrino, Carla J. Pimpinati, Edi L. Sartorato   +4 more
doaj   +2 more sources

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation‐Associated Non‐Syndromic Hearing Loss in Morocco [PDF]

OTO Open
Objective To assess the prevalence of the GJB2 c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations.
El Mostafa Salman, Meriem El Qabli, Loubna Soufian, Maria Mansouri, Fatima Zahrae Bouzid, Omar Oulghoul, Mohamed Chehbouni, Youssef Lakhdar, Youssef Rochdi, Abdelaziz Raji, Nisrine Aboussair   +10 more
doaj   +2 more sources

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil [PDF]

Brazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini   +4 more
doaj   +2 more sources

Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2021
Introduction/Objective. Hearing impairment is the most common sensorineural disorder with an incidence of 1/700–1000 newborns. Variants in the GJB2 gene are the major cause of autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL).
Dobrić Bojana, Radivojević Danijela, Ječmenica Jovana, Neocleous Vassos, Fanis Pavlos, Phylactou Leonidas A., Đurišić Marina   +6 more
doaj   +1 more source

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population

Brazilian Journal of Otorhinolaryngology, 2019
Introduction: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss.
Felippe Felix, Marcia Gonçalves Ribeiro, Shiro Tomita, Mariano Gustavo Zalis   +3 more
doaj   +1 more source

Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

Egyptian Journal of Medical Human Genetics, 2021
Background Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic deafness ...
Sergio Arias, Irene Paradisi, Alba Hernández, Daniela Kanzler   +3 more
doaj   +1 more source

Molecular study of hearing loss in Minas Gerais, Brazil

Brazilian Journal of Otorhinolaryngology, 2020
Introduction: Deafness is the most frequent sensory deficit in humans. Incidence is estimated at 4:1000 births in Brazil. Specific programs for clinical care of patients with hearing loss are still scarce in Brazil and the issue is an important public ...
Raíssa de Oliveira Aquino Schüffner, Karla Lima Nascimento, Fábio André Dias, Pedro Henrique Teodoro da Silva, Wrgelles Godinho Bordone Pires, Nilson Moreira Cipriano, Junior, Luciana Lara dos Santos   +6 more
doaj   +1 more source