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375 results

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Page 1
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: alper sl. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Choi BY, Stewart AK, Nishimura KK, Cha WJ, Seong MW, Park SS, Kim SW, Chun YS, Chung JW, Park SN, Chang SO, Kim CS, Alper SL, Griffith AJ, Oh SH. Choi BY, et al. Among authors: alper sl. Genet Test Mol Biomarkers. 2009 Oct;13(5):679-87. doi: 10.1089/gtmb.2009.0054. Genet Test Mol Biomarkers. 2009. PMID: 19645628 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: alper sl. Adv Otorhinolaryngol. 2011;70:43-49. doi: 10.1159/000322469. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358184 Review.
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: alper sl. 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.
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ. Chattaraj P, et al. Among authors: alper sl. JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. JAMA Otolaryngol Head Neck Surg. 2013. PMID: 24051746
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: alper sl. Laryngoscope. 2016 Jul;126(7):E240-7. doi: 10.1002/lary.25737. Epub 2015 Oct 20. Laryngoscope. 2016. PMID: 26485571 Free PMC article.
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL. Dai P, et al. Among authors: alper sl. Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Physiol Genomics. 2009. PMID: 19509082
Pendrin function and regulation in Xenopus oocytes.
Reimold FR, Heneghan JF, Stewart AK, Zelikovic I, Vandorpe DH, Shmukler BE, Alper SL. Reimold FR, et al. Among authors: alper sl. Cell Physiol Biochem. 2011;28(3):435-50. doi: 10.1159/000335106. Epub 2011 Nov 16. Cell Physiol Biochem. 2011. PMID: 22116357 Free PMC article.
375 results