Citations for
1DFNB4, SLC26A4
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Rendtorff ND, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansén EC, Nickelsen LA, Tümer Z, Fagerheim T, Wetke R, Tranebjaerg L.
Clin Genet 84(4):388-91. doi: 10.1111/cge.12074. Epub 2013 Jan 22. No abstract available. 2013
2DFNB4, SLC26A4
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.
Guo YF, Wang YL, Xu BC, Liu XW, Zhu YM, Zhao FF, Ji YB, Zhou Y, Li JQ, Li Q, Wang DY, Wang QJ.
Int J Pediatr Otorhinolaryngol 74(7):831-5. Epub 2010 May 18. 2010
3DFNB4, SLC26A4
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-Ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S.
J Hum Genet 54(5):266-70. Epub 2009 Mar 13. 2009
4DFNB4, SLC26A4
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ.
J Med Genet 46(12):856-61. Epub 2009 Jul 2.PMID: 19578036 2009
5DFNB4, PDS, SLC26A4
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.
Eur J Hum Genet 16(8):888-96. Epub 2008 Feb 20. 2008
6DFNB4, PDS, SLC26A4
Heterogeneity in the processing defect of SLC26A4 mutants.
Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG.
J Med Genet 45(7):411-9. Epub 2008 Feb 29. 2008
7DFNB4,SLC26A4
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.
J Hum Genet 52(6):492-7. Epub 2007 Apr 19. 2007
8DFNB4, SLC26A4
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y.
Clin Genet 72(3):245-54. 2007
9DFNB4, SLC26A4
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabedian EN, Couderc R, Marlin S, Denoyelle F.
Eur J Hum Genet 14(6):773-9. 2006
10SLC26A4, PDS, DFNB4
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ.
J Med Genet 42(2):159-65. No abstract available. 2005
11DFNB4, SLC26A4, PDS
Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
Arellano B, Pera A, Ramirez-Camacho R, Villamar M, Trinidad A, Garcia JR, Moreno F, Hernandez-Chico C.
Clin Genet 67(5):438-40. No abstract available. 2005
12DFNB1, DFNB4, DFNB8, DFNB9, DFNB21
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R.
Clin Genet 68(6):506-12. 2005
13DFNB4, SLC26A4
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ.
Am J Med Genet 124A(1):1-9. 2004
14DFNB4, PDS, SLC26A4
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.
Hum Mutat 17(5):403-11. 2001
15DFNB1, DFNB4, DFNB9, GJB2, OTOF, SLC26A4
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
Adato A, Raskin L, Petit C, Bonne-Tamir B.
Eur J Hum Genet 8(6):437-42. 2000
16DFNB4, SLC26A4
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC.
Hum Mol Genet 9(11):1709-15. 2000
17DFNB4, SLC26A4
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
Usami S, et al.
Hum Genet 104(2):188-92. 1999
18DFNB4, SLC26A4
A mutation in PDS causes non-syndromic recessive deafness.
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.
Nat Genet 18(3):215-7. No abstract available. 1998
19DFNB4, DFNB17, SLC26A4
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
Greinwald JH, et al.
Am J Med Genet 78 : 107-113. 1998
20DFNB4, SLC26A4
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
Baldwin CT, et al.
Hum Mol Genet 4 : 1637-1642. 1995