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426 related items for PubMed ID: 15964725
21. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A. Hear Res; 2004 Feb; 188(1-2):42-6. PubMed ID: 14759569 [Abstract] [Full Text] [Related]
22. [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset]. Gallo-Terán J, Morales-Angulo C, Rodríguez-Ballesteros M, Moreno-Pelayo MA, del Castillo I, Moreno F. Acta Otorrinolaringol Esp; 2005 Dec; 56(10):463-8. PubMed ID: 16425640 [Abstract] [Full Text] [Related]
23. Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I. PLoS One; 2011 Dec; 6(6):e21665. PubMed ID: 21738759 [Abstract] [Full Text] [Related]
24. Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. Seeman P, Bendová O, Rasková D, Malíková M, Groh D, Kabelka Z. Ann Hum Genet; 2005 Jan; 69(Pt 1):9-14. PubMed ID: 15638823 [Abstract] [Full Text] [Related]
25. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Angeli SI. Laryngoscope; 2008 Nov; 118(11):2014-23. PubMed ID: 18758381 [Abstract] [Full Text] [Related]
26. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F. N Engl J Med; 2002 Jan 24; 346(4):243-9. PubMed ID: 11807148 [Abstract] [Full Text] [Related]
27. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, Benettazzo F, Zelante L, Arslan E. Int J Audiol; 2009 Jan 24; 48(1):12-7. PubMed ID: 19173109 [Abstract] [Full Text] [Related]
28. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. Esmaeili M, Bonyadi M, Nejadkazem M. Int J Pediatr Otorhinolaryngol; 2007 Jun 24; 71(6):869-73. PubMed ID: 17368814 [Abstract] [Full Text] [Related]
29. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S. Hear Res; 2005 Dec 24; 210(1-2):80-4. PubMed ID: 16243461 [Abstract] [Full Text] [Related]
30. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides Y, Anastasiadou V, Phylactou LA. Genet Test; 2006 Dec 24; 10(4):285-9. PubMed ID: 17253936 [Abstract] [Full Text] [Related]
31. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M. Biochem Biophys Res Commun; 2009 Jul 31; 385(3):445-8. PubMed ID: 19465004 [Abstract] [Full Text] [Related]
32. 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 31; 78(7):1057-60. PubMed ID: 24774219 [Abstract] [Full Text] [Related]
33. 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 31; 12(2):253-6. PubMed ID: 18554165 [Abstract] [Full Text] [Related]
34. 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 31; 131(6):481-7. PubMed ID: 15967879 [Abstract] [Full Text] [Related]
35. Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. Bonyadi M, Esmaeili M, Abhari M, Lotfi A. Genet Test Mol Biomarkers; 2009 Oct 31; 13(5):689-92. PubMed ID: 19715472 [Abstract] [Full Text] [Related]
36. Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil. Esteves MC, de Lima Isaac M, Francisco AM, da Silva Junior WA, Ferreira CA, Dell'Aringa AH. Eur Arch Otorhinolaryngol; 2014 Apr 31; 271(4):695-9. PubMed ID: 23553242 [Abstract] [Full Text] [Related]
37. GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon. Tingang Wonkam E, Chimusa E, Noubiap JJ, Adadey SM, F Fokouo JV, Wonkam A. Genes (Basel); 2019 Oct 25; 10(11):. PubMed ID: 31731535 [Abstract] [Full Text] [Related]
38. [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?]. Birkenhäger R, Zimmer AJ, Maier W, Schipper J. Laryngorhinootologie; 2006 Mar 25; 85(3):191-6. PubMed ID: 16547895 [Abstract] [Full Text] [Related]
39. 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 25; 79(11):1892-5. PubMed ID: 26409293 [Abstract] [Full Text] [Related]
40. Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, Oitmaa E, Kahre T, Tõnisson N, Ounap K. Int J Pediatr Otorhinolaryngol; 2010 Sep 25; 74(9):1007-12. PubMed ID: 20708129 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]