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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. Among authors: shawker t. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ. Ito T, et al. Among authors: shawker t. Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18. Cell Physiol Biochem. 2011. PMID: 22116369 Free PMC article. Review.
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Muskett JA, Chattaraj P, Heneghan JF, Reimold FR, Shmukler BE, Brewer CC, King KA, Zalewski CK, Shawker TH, Butman JA, Kenna MA, Chien WW, Alper SL, Griffith AJ. Muskett JA, et al. Among authors: shawker th. Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20. Laryngoscope. 2016. PMID: 26485571 Free PMC article.
Hereditary hearing loss with thyroid abnormalities.
Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ. Choi BY, et al. Among authors: shawker t. Adv Otorhinolaryngol. 2011;70:43-49. doi: 10.1159/000322469. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358184 Review.
186 results