These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

482 related articles for article (PubMed ID: 23141775)

  • 21. [Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment].
    Schade G; Kothe C; Ruge G; Hess M; Meyer CG
    Laryngorhinootologie; 2003 Jun; 82(6):397-401. PubMed ID: 12851846
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
    Petersen MB; Grigoriadou M; Koutroumpe M; Kokotas H
    Int J Pediatr Otorhinolaryngol; 2012 Jul; 76(7):969-71. PubMed ID: 22484064
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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. PubMed ID: 15464308
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
    Tlili A; Al Mutery A; Kamal Eddine Ahmad Mohamed W; Mahfood M; Hadj Kacem H
    Genet Test Mol Biomarkers; 2017 Nov; 21(11):686-691. PubMed ID: 29016196
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
    Kabahuma RI; Ouyang X; Du LL; Yan D; Hutchin T; Ramsay M; Penn C; Liu XZ
    Int J Pediatr Otorhinolaryngol; 2011 May; 75(5):611-7. PubMed ID: 21392827
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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. PubMed ID: 22429511
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
    Feldmann D; Denoyelle F; Chauvin P; Garabédian EN; Couderc R; Odent S; Joannard A; Schmerber S; Delobel B; Leman J; Journel H; Catros H; Le Maréchal C; Dollfus H; Eliot MM; Delaunoy JP; David A; Calais C; Drouin-Garraud V; Obstoy MF; Bouccara D; Sterkers O; Huy PT; Goizet C; Duriez F; Fellmann F; Hélias J; Vigneron J; Montaut B; Lewin P; Petit C; Marlin S
    Am J Med Genet A; 2004 Jun; 127A(3):263-7. PubMed ID: 15150777
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.
    Stinckens C; Kremer H; van Wijk E; Hoefsloot LH; Huygen PL; Standaert L; Fryns JP; Cremers CW
    Ann Otol Rhinol Laryngol; 2004 Jul; 113(7):587-93. PubMed ID: 15274422
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
    Matos TD; Simões-Teixeira H; Caria H; Gonçalves AC; Chora J; Correia Mdo C; Moura C; Rosa H; Monteiro L; O'Neill A; Dias Ó; Andrea M; Fialho G
    Int J Audiol; 2013 Jul; 52(7):466-71. PubMed ID: 23668481
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
    Kashef A; Nikzat N; Bazzazadegan N; Fattahi Z; Sabbagh-Kermani F; Taghdiri M; Azadeh B; Mojahedi F; Khoshaeen A; Habibi H; Najmabadi H; Kahrizi K
    Int J Pediatr Otorhinolaryngol; 2015 Feb; 79(2):136-8. PubMed ID: 25555641
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 210(1-2):80-4. PubMed ID: 16243461
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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. PubMed ID: 21227513
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.
    Bosch J; Noubiap JJ; Dandara C; Makubalo N; Wright G; Entfellner JB; Tiffin N; Wonkam A
    OMICS; 2014 Nov; 18(11):705-10. PubMed ID: 25162826
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
    Kim SY; Kim AR; Kim NKD; Lee C; Kim MY; Jeon EH; Park WY; Choi BY
    Medicine (Baltimore); 2016 Apr; 95(14):e3029. PubMed ID: 27057829
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.
    Hochman JB; Stockley TL; Shipp D; Lin VY; Chen JM; Nedzelski JM
    Otol Neurotol; 2010 Aug; 31(6):919-22. PubMed ID: 20601923
    [TBL] [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; 271(4):695-9. PubMed ID: 23553242
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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. PubMed ID: 17553572
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Unique Mutational Spectrum of the
    Posukh OL; Zytsar MV; Bady-Khoo MS; Danilchenko VY; Maslova EA; Barashkov NA; Bondar AA; Morozov IV; Maximov VN; Voevoda MI
    Genes (Basel); 2019 Jun; 10(6):. PubMed ID: 31195736
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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. PubMed ID: 24529908
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.
    Mahdieh N; Shirkavand A; Raeisi M; Akbari MT; Tekin M; Zeinali S
    Biochem Biophys Res Commun; 2010 Nov; 402(2):305-7. PubMed ID: 20937258
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.