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Items: 1 to 20 of 129

1.

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.

Castro LS, Marinho AN, Rodrigues EM, Marques GC, Carvalho TA, Silva LC, dos Santos SE.

Braz J Otorhinolaryngol. 2013 Jan-Feb;79(1):95-9. English, Portuguese.

2.

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
3.

Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.

Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Rabbi-Bortolini E.

Braz J Otorhinolaryngol. 2010 Jul-Aug;76(4):428-32. English, Portuguese.

4.

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
5.

Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.

Belintani Piatto V, Maria Goloni Bertollo E, Lúcia Sartorato E, Victor Maniglia J.

Hear Res. 2004 Oct;196(1-2):87-93.

PMID:
15464305
6.

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
7.

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
8.

First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.

Al-Achkar W, Al-Halabi B, Ali B, Moassass F.

Int J Pediatr Otorhinolaryngol. 2017 Jan;92:82-87. doi: 10.1016/j.ijporl.2016.11.015. Epub 2016 Nov 15.

PMID:
28012540
9.

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.

Minárik G, Tretinárová D, Szemes T, Kádasi L.

Int J Pediatr Otorhinolaryngol. 2012 Mar;76(3):400-3. doi: 10.1016/j.ijporl.2011.12.020. Epub 2012 Jan 26.

PMID:
22281373
10.

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K.

Hear Res. 2004 Oct;196(1-2):115-8.

PMID:
15464308
11.

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

Tamayo ML, Olarte M, Gelvez N, Gómez M, Frías JL, Bernal JE, Florez S, Medina D.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):97-101. doi: 10.1016/j.ijporl.2008.10.001. Epub 2008 Nov 21.

PMID:
19027181
12.

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
13.

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss.

Al-Achkar W, Moassass F, Al-Halabi B, Al-Ablog A.

Mol Med Rep. 2011 Mar-Apr;4(2):331-5. doi: 10.3892/mmr.2011.428. Epub 2011 Jan 25.

PMID:
21468573
14.

The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

Rodriguez-Paris J, Schrijver I.

Biochem Biophys Res Commun. 2009 Nov 13;389(2):354-9. doi: 10.1016/j.bbrc.2009.08.152. Epub 2009 Aug 31.

PMID:
19723508
15.

Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.

Gualandi E, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, Martini A, Calzolari E.

Acta Otolaryngol Suppl. 2004 May;(552):29-34.

PMID:
15219044
16.

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.

Shan J, Chobot-Rodd J, Castellanos R, Babcock M, Shanske A, Parikh SR, Morrow BE, Samanich J.

Int J Pediatr Otorhinolaryngol. 2010 Jun;74(6):611-8. doi: 10.1016/j.ijporl.2010.03.004. Epub 2010 Apr 9.

PMID:
20381175
17.

Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania.

Rădulescu L, Mârţu C, Birkenhäger R, Cozma S, Ungureanu L, Laszig R.

Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):90-4. doi: 10.1016/j.ijporl.2011.10.007. Epub 2011 Nov 8.

PMID:
22070872
18.

Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

Paz-y-Miño C, Beaty D, López-Cortés A, Proaño I.

Int J Pediatr Otorhinolaryngol. 2014 Oct;78(10):1648-54. doi: 10.1016/j.ijporl.2014.07.014. Epub 2014 Jul 21.

PMID:
25085072
19.

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
20.

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.

Haghighat-Nia A, Keivani A, Nadeali Z, Fazel-Najafabadi E, Hosseinzadeh M, Salehi M.

Int J Pediatr Otorhinolaryngol. 2015 Nov;79(11):1892-5. doi: 10.1016/j.ijporl.2015.08.039. Epub 2015 Sep 2.

PMID:
26409293

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