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 *

182 related articles for article (PubMed ID: 18283249)

  • 21. Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation.
    Wu CC; Lin SY; Su YN; Fang MY; Chen SU; Hsu CJ
    Audiol Neurootol; 2010; 15(5):311-7. PubMed ID: 20160438
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
    Fugazzola L; Cerutti N; Mannavola D; Crino A; Cassio A; Gasparoni P; Vannucchi G; Beck-Peccoz P
    Pediatr Res; 2002 Apr; 51(4):479-84. PubMed ID: 11919333
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetics and phenomics of Pendred syndrome.
    Bizhanova A; Kopp P
    Mol Cell Endocrinol; 2010 Jun; 322(1-2):83-90. PubMed ID: 20298745
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N; Borck G; Turk A; Napiontek U; Keilmann A; Müller-Forell W; Kopp P; Pohlenz J
    J Clin Endocrinol Metab; 2006 Jul; 91(7):2678-81. PubMed ID: 16684826
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene.
    Jung J; Seo YW; Choi JY; Kim SH
    Hear Res; 2016 May; 335():33-39. PubMed ID: 26900070
    [TBL] [Abstract][Full Text] [Related]  

  • 26. SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.
    Li X; Sanneman JD; Harbidge DG; Zhou F; Ito T; Nelson R; Picard N; Chambrey R; Eladari D; Miesner T; Griffith AJ; Marcus DC; Wangemann P
    PLoS Genet; 2013; 9(7):e1003641. PubMed ID: 23874234
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
    Choi BY; Stewart AK; Madeo AC; Pryor SP; Lenhard S; Kittles R; Eisenman D; Kim HJ; Niparko J; Thomsen J; Arnos KS; Nance WE; King KA; Zalewski CK; Brewer CC; Shawker T; Reynolds JC; Butman JA; Karniski LP; Alper SL; Griffith AJ
    Hum Mutat; 2009 Apr; 30(4):599-608. PubMed ID: 19204907
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
    Honda K; Griffith AJ
    Hum Genet; 2022 Apr; 141(3-4):455-464. PubMed ID: 34345941
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
    Jonard L; Niasme-Grare M; Bonnet C; Feldmann D; Rouillon I; Loundon N; Calais C; Catros H; David A; Dollfus H; Drouin-Garraud V; Duriez F; Eliot MM; Fellmann F; Francannet C; Gilbert-Dussardier B; Gohler C; Goizet C; Journel H; Mom T; Thuillier-Obstoy MF; Couderc R; Garabédian EN; Denoyelle F; Marlin S
    Int J Pediatr Otorhinolaryngol; 2010 Sep; 74(9):1049-53. PubMed ID: 20621367
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
    Mercer S; Mutton P; Dahl HH
    Genet Test Mol Biomarkers; 2011 May; 15(5):365-8. PubMed ID: 21366435
    [TBL] [Abstract][Full Text] [Related]  

  • 31. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
    Chao JR; Chattaraj P; Munjal T; Honda K; King KA; Zalewski CK; Chien WW; Brewer CC; Griffith AJ
    BMC Med Genet; 2019 Jul; 20(1):118. PubMed ID: 31266487
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
    Blons H; Feldmann D; Duval V; Messaz O; Denoyelle F; Loundon N; Sergout-Allaoui A; Houang M; Duriez F; Lacombe D; Delobel B; Leman J; Catros H; Journel H; Drouin-Garraud V; Obstoy MF; Toutain A; Oden S; Toublanc JE; Couderc R; Petit C; Garabédian EN; Marlin S
    Clin Genet; 2004 Oct; 66(4):333-40. PubMed ID: 15355436
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.
    Iwasaki S; Tsukamoto K; Usami S; Misawa K; Mizuta K; Mineta H
    J Hum Genet; 2006; 51(9):805-810. PubMed ID: 16924389
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
    Yang T; Vidarsson H; Rodrigo-Blomqvist S; Rosengren SS; Enerback S; Smith RJ
    Am J Hum Genet; 2007 Jun; 80(6):1055-63. PubMed ID: 17503324
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Evidence of a novel gene for the LAV-syndrome].
    Birkenhäger R; Zimmer AJ; Maier W; Klenzner T; Aschendorff A; Schipper J
    Laryngorhinootologie; 2007 Feb; 86(2):102-6. PubMed ID: 17131260
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Two missense mutations in SLC26A4 gene: a molecular and functional study.
    Rebeh IB; Yoshimi N; Hadj-Kacem H; Yanohco S; Hammami B; Mnif M; Araki M; Ghorbel A; Ayadi H; Masmoudi S; Miyazaki H
    Clin Genet; 2010 Jul; 78(1):74-80. PubMed ID: 20128824
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.
    Sagong B; Seok JH; Kwon TJ; Kim UK; Lee SH; Lee KY
    Gene; 2012 Oct; 508(1):135-9. PubMed ID: 22884721
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].
    Li Q; Fang R; You Y; Wang Y; Dai P
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2010 Oct; 24(19):876-9. PubMed ID: 21174747
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome].
    Chen J; Shi LS; Zhou H; Zhu GJ; Ma DB; Li JY; Gao X
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2017 May; 31(9):694-696. PubMed ID: 29871349
    [No Abstract]   [Full Text] [Related]  

  • 40. Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome.
    Zhao FF; Lan L; Wang DY; Han B; Qi Y; Zhao Y; Zong L; Li Q; Wang QJ
    Acta Otolaryngol; 2013 Dec; 133(12):1242-9. PubMed ID: 24245694
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.