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Items: 1 to 20 of 99

1.

Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.

Abe S, Nishio SY, Yokota Y, Moteki H, Kumakawa K, Usami SI.

Clin Case Rep. 2018 Sep 21;6(11):2111-2116. doi: 10.1002/ccr3.1800. eCollection 2018 Nov.

2.

The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children.

Asma A, Ashwaq A, Norzana AG, Atmadini AM, Ruszymah BH, Saim L, Wahida IF.

Med J Malaysia. 2011 Jun;66(2):124-8.

3.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.

Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1.

4.

Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.

Mahdieh N, Rabbani B, Shirkavand A, Bagherian H, Movahed ZS, Fouladi P, Rahiminejad F, Masoudifard M, Akbari MT, Zeinali S.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):489-93. doi: 10.1089/gtmb.2010.0145. Epub 2011 Mar 9.

PMID:
21388256
5.

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
6.

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS.

Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29.

PMID:
26444186
7.

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).

Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I.

PLoS One. 2011;6(6):e21665. doi: 10.1371/journal.pone.0021665. Epub 2011 Jun 29.

8.

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O, Vatter A, Zechner U, Kohlschmidt N, Wetzig C, Baumgart A, Nospes S, Haaf T, Keilmann A.

Audiol Neurootol. 2010;15(6):375-82. doi: 10.1159/000297216. Epub 2010 Mar 17.

PMID:
20234132
9.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.

Genet Med. 2003 Jul-Aug;5(4):295-303.

PMID:
12865758
10.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668644
11.
12.

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
13.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F.

Eur J Med Genet. 2009 Jul-Aug;52(4):195-200. doi: 10.1016/j.ejmg.2008.11.006. Epub 2008 Dec 13.

PMID:
19101659
14.

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
15.

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
16.

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
17.

Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.

Loeza-Becerra F, Rivera-Vega Mdel R, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P, Cuevas-Covarrubias S.

Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1057-60. doi: 10.1016/j.ijporl.2014.04.002. Epub 2014 Apr 12.

PMID:
24774219
18.

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I.

Genet Med. 2007 Jul;9(7):413-26.

PMID:
17666888
19.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F.

Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7.

PMID:
15967879
20.

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

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