Results 71 to 80 of about 1,391 (157)

Frequencies of Mutations in the Connexin 26 Gene (GJB2) in Two Populations of Iran (Tehran and Tabriz) [PDF]

Iranian Journal of Public Health, 2005
While hearing loss has been considered to be a very heterogeneous disorder, mutations in Gap junction beta 2 (GJB2) gene encoding Connexin 26 (Cx26) protein are the major cause of autosomal recessive and sporadic non-syndromic deafness in many ...
M Hashemzadeh Chaleshtori, L Hoghooghi Rad, M Dolati, R Sasanfar, A Hoseinipour, M Montazer Zohour, H Pourjafari, A Tolooi, M Ghadami, DD Farhud, MA Patton   +10 more
doaj   +1 more source

Mutation-specific haplotype structures of GJB2 c.235delC and c. 35delG in different populations.

, 2018
Mutation-specific haplotype structures of GJB2 c.235delC and c. 35delG in different populations.
Yen-Hui Chan (6111998), Delgermaa Bataakhuu (6111992), Khongorzul Ganbat (6111989), Yi-Hsin Lin (3959195), Chen-Chi Wu (212810), Chuan-Jen Hsu (212848), Cheng-Yu Tsai (586735), Jargalkhuu Erdenechuluun (6111986), Wei-Chung Hsu (476998), Yin-Hung Lin (381598), Zaya Makhbal (6111995), Pei-Lung Chen (231490)   +11 more
core   +1 more source

Perspectivas para triagem da deficiência auditiva genética: rastreamento da mutação 35delG em neonatos

, 2017
OBJECTIVES: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment.
Piatto, Vania B., Pimpinati, Carla J., Sartorato, Edi L., Oliveira, Camila A., Alexandrino, Fabiana   +4 more
core  

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

, 2004
Objective This study evaluates the prevalence of 35delG GJB2 mutation, the most common genetic mutation causing prelingual deafness, and its screening feasibility and acceptability in pregnant women undergoing first-trimester CVS for chromosomal ...
Brambati, Bruno, DA Coviello, PERCESEPE, Antonio, L. Tului, Sironi, Francesca, Bertorelli, Roberto, A. Sahai, Coviello, Domenico A., R. Bertorelli, FORABOSCO, Antonino, Sahai, Achal, F. Sironi, B. Brambati, Tului, Lucia   +13 more
core   +1 more source

Frequency of the 35delG Mutation in the GJB2 Gene in Samples of European, Asian, and African Brazilians

, 2004
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, Jr., W A, Alexandrino, F, Oliveira, C A, Abe-Sandes, K   +3 more
core   +1 more source

Hypothesizing an Ancient Greek Origin of the GJB2 35delG Mutation: Can Science Meet History?

, 2010
One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the genetics of nonsyndromic hearing loss.
Kokotas, Haris, Grigoriadou, Maria, Giannoulia-Karantana, Aglaia, Villamar, Manuela, del Castillo, Ignacio, Petersen, Michael B.   +6 more
core   +1 more source

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

, 2005
Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss.
Elsayed, S., Tastan, HAKKI, Arican, S.T., Akar, N., Arican, S T, Akar, N, Orman, M.N., Boǧoclu, G., Tekin, Mustafa, Tekin, M, Boğoclu, G, Tastan, H, Elsayed, S, Orman, M N, Elsobky, E   +14 more
core   +1 more source

GJB2 Mutations Screening in Autosomal Recessive Non-Syndrome Deaf Patients of Khouzestan Province

Journal of Rehabilitation, 2006
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non-syndromic with autosomal recessive forms accounting for ~85% of the genetic load.
Kimia Kahrizi, Ali Sajjadi, Marzieh Mohseni, Yaser Riaz-el Hosseini, Hossein Najm-Abadi   +4 more
doaj  

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss. [PDF]

, 2007
Contains fulltext : 52415.pdf (Publisher’s version ) (Closed access)HYPOTHESIS: The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss ...
PYYKKO, I, SLIWINSKA-KOWALSKA, M, Bille, M., Orzan, E., ORZAN, E, KUNST, S, KREMER, H, Verbruggen, K., MAZZOLI, M, Eyken, E. van, VAN CAMP, G, PFISTER, M, PAWELCZYK, M, Jensen, M., VAN EYKEN, E, Dhooge, Ingeborg, Van Laer, Lut, CREMERS, C, Hannula, S., Sorri, M., MANNINEN, M, Pyykko, I., Manninen, M., BAUR, M, Mazzoli, M., FRANSEN, E, Pfister, M., SORRI, M, HUYGHE, JOKE, Kunst, S.J.W., TOPSAKAL, V, Espeso, A., Wienker, T.F., VAN DE HEYNING, P, BONACONSA, A, Kremer, H., Steffens, M., Dhooge, I.J., RAJKOWSKA, E, Rajkowska, E., Sliwinska-Kowalska, M., STEPHENS, D, HUYGEN, P, Laer, L. van, DEMEESTER, K, Pawelczyk, M., VERBRUGGEN, KATIA, Camp, G. van, MAKI-TORKKO, E, BILLE, M, PARVING, A, Huyghe, J., HENDRICKX, JJ, Huygen, P.L.M., Topsakal, V., Cremers, C.W.R.J., Hendrickx, J.J., Parving, A., Stephens, D., WIENKER, T, JENSEN, M, Bonaconsa, A., HANNULA, S, ESPESO, A, STEFFENS, M, Fransen, E., Maki-Torkko, E., Demeester, K., Heyning, P. van de, Baur, M.   +69 more
core  

Seguimiento audiológico de la hipoacusia neurosensorial no sindrómica a pacientes homocigotas para la mutación c.35delG en el gen GJB2

, 2023
The recessive c.35delG mutation in the GJB2 gene is one of the most common mutations associated with non-syndromic sensorineural hearing loss (NSHL). This nonsense mutation knocks out the function of the connexin 26 protein in the inner ear, which is ...
Reynoso, RA, Curet, CA, Salvadores, MI, Del Castillo, I, Sembaj, A, Quinteros, F   +5 more
core   +1 more source