Results 61 to 70 of about 1,391 (157)

Study of Frequency and Spectrum of GJB2 Gene Mutations in Non-Syndromic Hearing Loss Patients of Semnan Province

Armaghane Danesh Bimonthly Journal, 2022
Background & aim: Deafness (HL) is the most common sensorineural disorder. The frequency of hearing impairment in the world is one in every 500 newborns.
F Parvini, S Noavar, H Fahimi
doaj  

Spectrum of Gjb2 Gene Mutations in Nonsyndromic Autosomal Recessive Deaf Patients in Yazd

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2005
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature.
H Najmabadi, R Smith, MK Javan, M Abhaji, N Bazazzadegan, A Dehghani, Y Riazzalhoseini, K Kahrizi, M Mirab, M Seifati, H Khodaie, M Moghannibashi   +11 more
doaj  

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

Brazilian Journal of Medical and Biological Research, 2009
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation,
A.C. Batissoco, M.T.B.M. Auricchio, L. Kimura, A. Tabith-Junior, R.C. Mingroni-Netto   +4 more
doaj   +1 more source

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment [PDF]

, 2001
Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26.
Caethoven, G., Fransen, E, Caethoven, G, Van Camp, G, Houseman, M, Mueller, R.F., Smith, RJH, Rowland, J, Rowland, J., L Van Laer, Flothmann, K, Coucke, P., Chamberlin, G.P., Van Laer, Lut, Mueller, RF, Van de Heyning, CM, Smith, R.J.H., Coucke, Paul, Taylor, G.R., Cucci, R.A., Chamberlin, GP, Taylor, GR, Houseman, M., Prasad, SD, Prasad, S.D., Cucci, RA, Flothmann, K., Van Camp, G., Van De Heyning, C.M., Van Laer, L., Fransen, E.   +30 more
core   +1 more source

Report of a New Mutation and Frequency of Connexin 26 gene (GJB2) Mutations in Patients from Three Provinces of Iran [PDF]

Iranian Journal of Public Health, 2005
Autosomal recessive and sporadic non-syndromic hearing loss (ARSNSHL) is the major form of hereditary deafness.Mutations in the GJB2 gene encoding the gap-junction protein Connexin 26 have been identified to be highly associated with ARSNSHL.
A Hosseinipour, M Hashemzadeh Chaleshtori, R Sasanfar, DD Farhud, A Tolooi, M Doulati, L Hoghooghi Rad, M Montazer zohour, M Ghadami   +8 more
doaj   +1 more source

Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians

, 2015
Mutations in the GJB2 gene are a major cause of congenital deafness. One specific mutation, the 35delG mutation, has accounted for most of the GJB2 mutations detected in European populations and is one of the most frequent disease mutations identified so
Silva, W A, Alexandrino, E, Maciel-Guerra, AT, Magna, LA, Alexandrino, F, Silva, WA, Sartorato, E L, Oliveira, C A, Maciel-Guerra, A T, Abe-Sandes, K, Magna, L A, Oliveira, CA, Sartorato, EL   +12 more
core   +1 more source

Detecção da mutação 35delG de fatores etiológico ambientais em usuários de implante coclear

, 2012
Aim: To identify the occurrence of 35delG mutation and of environmental factors related to hearing loss in patients with cochlear implant, determining the functional gain post-implant. Methods: It was a cross-sectional study conducted with six volunteers,
Lélis, Camila Nogueira, Sartorato, Edi Lúcia, Câmara, Marília Fontenele e Silva   +2 more
core   +1 more source

Implante coclear en niños con hipoacusia de causa genética por Síndrome Waardenburg y mutación 35delG [PDF]

, 2016
Introducción: La hipoacusia neurosensorial es la forma más común de déficit auditivo, se calcula que más de 80% de todas las pérdidas auditivas congénitas son de origen genético, siendo estas distinguidas en sindrómicas y no sindrómicas; la mutación ...
Martín García, Yesy, Quintana Mirabal, Sandra Elena, Morales Jiménez, Emilio Luis, Paz Cordovés, Antonio, Morales Peralta, Estela, González Sánchez, Gerda Alianna, Torres Fortuny, Alejandro   +6 more
core   +2 more sources

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

Journal of Translational Medicine, 2019
Background Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes typically underlying its monogenic form.
Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Dominika Oziębło, Henryk Skarżyński   +4 more
doaj   +1 more source

Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions

, 2015
Mutations in the GJB2 gene, which encodes the protein connexin 26, are a major cause of autosomal recessive deafness. The most frequent mutation, 35delG, has a carrier frequency as high as 4% in some countries, and this frequency varies in different ...
Magna, LA, Maciel-Guerra, AT, Alexandrino, F, Pimpinati, CJ, Oliveira, CA, Sartorato, EL   +5 more
core   +1 more source