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 *

448 related articles for article (PubMed ID: 17253936)

  • 1. 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; 10(4):285-9. PubMed ID: 17253936
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 11(4):347-52. PubMed ID: 18294049
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; Otto PA; Mingroni-Netto RC
    Ear Hear; 2009 Feb; 30(1):1-7. PubMed ID: 19125024
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
    Naddafnia H; Noormohammadi Z; Irani S; Salahshoorifar I
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00780. PubMed ID: 31162818
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
    Cordeiro-Silva Mde F; Barbosa A; Santiago M; Provetti M; Dettogni RS; Tovar TT; Rabbi-Bortolini E; Louro ID
    Mol Biol Rep; 2011 Feb; 38(2):1309-13. PubMed ID: 20563649
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 23434199
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 19814620
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 20022641
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 76(4):428-32. PubMed ID: 20835527
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 15964725
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
    Talbi S; Bonnet C; Boudjenah F; Mansouri MT; Petit C; Ammar Khodja F
    Int J Pediatr Otorhinolaryngol; 2019 Sep; 124():157-160. PubMed ID: 31200317
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 18554165
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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; 389(2):354-9. PubMed ID: 19723508
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
    Del Castillo I; Moreno-Pelayo MA; Del Castillo FJ; Brownstein Z; Marlin S; Adina Q; Cockburn DJ; Pandya A; Siemering KR; Chamberlin GP; Ballana E; Wuyts W; Maciel-Guerra AT; Alvarez A; Villamar M; Shohat M; Abeliovich D; Dahl HH; Estivill X; Gasparini P; Hutchin T; Nance WE; Sartorato EL; Smith RJ; Van Camp G; Avraham KB; Petit C; Moreno F
    Am J Hum Genet; 2003 Dec; 73(6):1452-8. PubMed ID: 14571368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 15219044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 15464305
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.