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 *

680 related articles for article (PubMed ID: 11668644)

  • 1. 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. PubMed ID: 11668644
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].
    Wiszniewska J; Wiszniewski W; Bal J
    Med Wieku Rozwoj; 2002; 6(4):309-18. PubMed ID: 12810983
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
    Morell RJ; Kim HJ; Hood LJ; Goforth L; Friderici K; Fisher R; Van Camp G; Berlin CI; Oddoux C; Ostrer H; Keats B; Friedman TB
    N Engl J Med; 1998 Nov; 339(21):1500-5. PubMed ID: 9819448
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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. PubMed ID: 16547895
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 346(4):243-9. PubMed ID: 11807148
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
    Tekin M; Akar N; Cin S; Blanton SH; Xia XJ; Liu XZ; Nance WE; Pandya A
    Hum Genet; 2001 May; 108(5):385-9. PubMed ID: 11409864
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
    Wu BL; Kenna M; Lip V; Irons M; Platt O
    Am J Med Genet A; 2003 Aug; 121A(2):102-8. PubMed ID: 12910486
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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; 48(1):12-7. PubMed ID: 19173109
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Spectrum of
    Zheng BJ; Zhang T; Wang H; Tang XW; Zheng J; Lv JX; Guan MX
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Jun; 30(12):933-937. PubMed ID: 29771057
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    Pallares-Ruiz N; Blanchet P; Mondain M; Claustres M; Roux AF
    Eur J Hum Genet; 2002 Jan; 10(1):72-6. PubMed ID: 11896458
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.
    Lerer I; Sagi M; Malamud E; Levi H; Raas-Rothschild A; Abeliovich D
    Am J Med Genet; 2000 Nov; 95(1):53-6. PubMed ID: 11074495
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 34.