PubMed (cited) for id: 605646

Year	Number of Results
1995	1
1997	2
1998	4
1999	6
2000	5
2001	3
2002	3
2003	7
2004	1
2005	3
2006	1
2007	5
2008	3
2009	3
2010	1
2011	1
2012	1
2017	1
2024	0

1

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

Chattaraj P, Munjal T, Honda K, Rendtorff ND, Ratay JS, Muskett JA, Risso DS, Roux I, Gertz EM, Schäffer AA, Friedman TB, Morell RJ, Tranebjærg L, Griffith AJ. Chattaraj P, et al. J Med Genet. 2017 Oct;54(10):665-673. doi: 10.1136/jmedgenet-2017-104721. Epub 2017 Aug 5. J Med Genet. 2017. PMID: 28780564 Free PMC article.

2

Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.

Crovetto MA, Whyte J, Sarasola E, Rodriguez JA, García-Barcina MJ. Crovetto MA, et al. Am J Med Genet A. 2012 Jan;158A(1):251-3. doi: 10.1002/ajmg.a.34377. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139968 No abstract available.

3

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.

Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB. Dror AA, et al. J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4. J Biol Chem. 2010. PMID: 20442411 Free PMC article.

4

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ. Yang T, et al. Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7. Am J Hum Genet. 2009. PMID: 19426954 Free PMC article.

5

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. Anwar S, et al. J Hum Genet. 2009 May;54(5):266-70. doi: 10.1038/jhg.2009.21. Epub 2009 Mar 13. J Hum Genet. 2009. PMID: 19287372

6

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. Choi BY, et al. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.

7

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. Yoon JS, et al. J Med Genet. 2008 Jul;45(7):411-9. doi: 10.1136/jmg.2007.054635. Epub 2008 Feb 29. J Med Genet. 2008. PMID: 18310264

8

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. Pera A, et al. Eur J Hum Genet. 2008 Aug;16(8):888-96. doi: 10.1038/ejhg.2008.30. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285825

9

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J. Palos F, et al. J Clin Endocrinol Metab. 2008 Jan;93(1):267-77. doi: 10.1210/jc.2007-0539. Epub 2007 Oct 16. J Clin Endocrinol Metab. 2008. PMID: 17940114 Free PMC article.

10

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. Wang QJ, et al. Clin Genet. 2007 Sep;72(3):245-54. doi: 10.1111/j.1399-0004.2007.00862.x. Clin Genet. 2007. PMID: 17718863

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