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Items: 1 to 20 of 150

1.

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.

Tarkan Ö, Sari P, Demirhan O, Kiroğlu M, Tuncer Ü, Sürmelioğlu Ö, Ozdemir S, Yilmaz MB, Kara K.

J Laryngol Otol. 2013 Jan;127(1):33-7. doi: 10.1017/S0022215112002587. Epub 2012 Nov 22.

PMID:
23171692
2.

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
3.

Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.

Evirgen N, Solak M, Dereköy S, Erdoğan M, Yildiz H, Eser B, Arikan S, Erkoç A.

Genet Test. 2008 Jun;12(2):253-6. doi: 10.1089/gte.2007.0106.

PMID:
18554165
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 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
6.

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
7.

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.

8.

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
9.

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
10.

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
11.

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].

Ratbi I, Hajji S, Ouldim K, Aboussair N, Feldmann D, Sefiani A.

Arch Pediatr. 2007 May;14(5):450-3. Epub 2007 Jan 16. French.

PMID:
17229560
12.

Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.

Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M.

Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):356-9. doi: 10.1016/j.ijporl.2010.12.003. Epub 2011 Jan 11.

PMID:
21227513
14.

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
15.

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.

Clin Genet. 2003 Jul;64(1):65-9.

PMID:
12791041
16.

Molecular study in Brazilian cochlear implant recipients.

Christiani TV, Alexandrino F, de Oliveira CA, Amantini RC, Bevilacqua MC, Filho OA, Porto P, Sartorato EL.

Am J Med Genet A. 2007 Jul 15;143A(14):1580-2.

PMID:
17567889
17.

[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].

Birkenhäger R, Zimmer AJ, Maier W, Schipper J.

Laryngorhinootologie. 2006 Mar;85(3):191-6. German.

PMID:
16547895
18.

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
19.
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