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 *

423 related articles for article (PubMed ID: 10980526)

  • 1. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
    Rabionet R; Gasparini P; Estivill X
    Hum Mutat; 2000 Sep; 16(3):190-202. PubMed ID: 10980526
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.
    Nahili H; Ridal M; Boulouiz R; Abidi O; Imken L; Rouba H; Alami MN; Chafik A; Hassar M; Barakat A
    Int J Pediatr Otorhinolaryngol; 2008 Nov; 72(11):1633-6. PubMed ID: 18809214
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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]  

  • 6. 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]  

  • 7. Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
    Belguith H; Tlili A; Dhouib H; Ben Rebeh I; Lahmar I; Charfeddine I; Driss N; Ghorbel A; Ayadi H; Masmoudi S
    Biochem Biophys Res Commun; 2009 Jul; 385(1):1-5. PubMed ID: 19254696
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 12791041
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
    Chen K; Wu X; Zong L; Jiang H
    J Clin Lab Anal; 2018 Nov; 32(9):e22592. PubMed ID: 29926981
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
    Liu XZ; Xia XJ; Ke XM; Ouyang XM; Du LL; Liu YH; Angeli S; Telischi FF; Nance WE; Balkany T; Xu LR
    Hum Genet; 2002 Oct; 111(4-5):394-7. PubMed ID: 12384781
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
    Griffith AJ; Chowdhry AA; Kurima K; Hood LJ; Keats B; Berlin CI; Morell RJ; Friedman TB
    Am J Hum Genet; 2000 Sep; 67(3):745-9. PubMed ID: 10903123
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP; Wilgoss AL; Richard G; Stevens HP; Munro CS; Leigh IM
    Eur J Hum Genet; 2000 Jun; 8(6):469-72. PubMed ID: 10888284
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP; Wilgoss AL; Richard G; Stevens HP; Munro CS; Leigh IM
    Eur J Hum Genet; 2000 Feb; 8(2):141-4. PubMed ID: 10757647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
    Birkenhäger R; Lüblinghoff N; Prera E; Schild C; Aschendorff A; Arndt S
    Am J Med Genet A; 2010 Jul; 152A(7):1798-802. PubMed ID: 20583176
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
    Xia JH; Liu CY; Tang BS; Pan Q; Huang L; Dai HP; Zhang BR; Xie W; Hu DX; Zheng D; Shi XL; Wang DA; Xia K; Yu KP; Liao XD; Feng Y; Yang YF; Xiao JY; Xie DH; Huang JZ
    Nat Genet; 1998 Dec; 20(4):370-3. PubMed ID: 9843210
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 22.