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Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC. Totonchy MB, et al. Among authors: griffith aj. Brain. 2013 Jan;136(Pt 1):194-208. doi: 10.1093/brain/aws317. Brain. 2013. PMID: 23365097 Free PMC article.
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. Pryor SP, et al. Among authors: griffith aj. J Med Genet. 2005 Feb;42(2):159-65. doi: 10.1136/jmg.2004.024208. J Med Genet. 2005. PMID: 15689455 Free PMC article. No abstract available.
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: griffith aj. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.
Otolaryngologic markers for the early diagnosis of Turner syndrome.
Makishima T, King K, Brewer CC, Zalewski CK, Butman J, Bakalov VK, Bondy C, Griffith AJ. Makishima T, et al. Among authors: griffith aj. Int J Pediatr Otorhinolaryngol. 2009 Nov;73(11):1564-7. doi: 10.1016/j.ijporl.2009.08.005. Epub 2009 Sep 3. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19732968 Free PMC article.
160 results