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Items: 1 to 20 of 174

1.

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, Romdhane L, Essaid D, Kefi R, Rhimi M, Bedoui M, Dhaouadi A, Feldmann D, Jonard L, Besbes G, Abdelhak S.

Gene. 2013 Aug 1;525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13.

PMID:
23680645
2.

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R.

Int J Pediatr Otorhinolaryngol. 2013 May;77(5):714-6. doi: 10.1016/j.ijporl.2013.01.024. Epub 2013 Feb 19.

PMID:
23434199
3.

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1485-8. doi: 10.1016/j.ijporl.2013.06.015. Epub 2013 Jul 12.

PMID:
23856379
4.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45. Epub 2007 Jun 5.

PMID:
17553572
5.

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC.

Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.

PMID:
19125024
6.

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A.

Eur J Med Genet. 2016 Jun;59(6-7):325-9. doi: 10.1016/j.ejmg.2016.05.002. Epub 2016 May 8.

PMID:
27169813
7.

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.

Sansović I, Knezević J, Musani V, Seeman P, Barisić I, Pavelić J.

Genet Test Mol Biomarkers. 2009 Oct;13(5):693-9. doi: 10.1089/gtmb.2009.0073.

PMID:
19814620
8.

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X, Huang D, Han D, Dai P.

J Transl Med. 2010 Dec 2;8:127. doi: 10.1186/1479-5876-8-127.

9.

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.

Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.

PMID:
20022641
10.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.

J Med Genet. 2004 Mar;41(3):147-54.

11.

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

12.

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O.

Genet Test. 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526.

PMID:
18294049
13.

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A.

Hear Res. 2005 May;203(1-2):88-93.

PMID:
15855033
14.

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL).

Bonyadi M, Fotouhi N, Esmaeili M.

Int J Pediatr Otorhinolaryngol. 2011 Dec;75(12):1612-5. doi: 10.1016/j.ijporl.2011.09.024. Epub 2011 Oct 14.

PMID:
22000900
15.

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M.

Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):832-6. doi: 10.1016/j.ijporl.2012.02.053. Epub 2012 Mar 18.

PMID:
22429511
16.

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

Bonyadi MJ, Fotouhi N, Esmaeili M.

Int J Pediatr Otorhinolaryngol. 2014 Apr;78(4):637-40. doi: 10.1016/j.ijporl.2014.01.022. Epub 2014 Jan 27.

PMID:
24529908
17.
18.

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X.

Hum Genet. 2000 Jan;106(1):40-4.

PMID:
10982180
19.

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

Dalamón V, Béhèran A, Diamante F, Pallares N, Diamante V, Elgoyhen AB.

Hear Res. 2005 Sep;207(1-2):43-9.

PMID:
15964725
20.

[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].

Bliznets EA, Galkina VA, Matiushchenko GN, Kisina AG, Markova TG, Poliakov AV.

Genetika. 2012 Jan;48(1):112-24. Russian.

PMID:
22567861

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