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159 results

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Page 1
Hearing impairment in Stickler syndrome.
Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL. Admiraal RJ, et al. Among authors: griffith aj. Adv Otorhinolaryngol. 2002;61:216-23. doi: 10.1159/000066812. Adv Otorhinolaryngol. 2002. PMID: 12408087 Review. No abstract available.
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ. McGuirt WT, et al. Among authors: griffith aj. Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516. Nat Genet. 1999. PMID: 10581026
Genetic modifiers of hereditary hearing loss.
Riazuddin S, Ahmed ZM, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Among authors: griffith aj. Adv Otorhinolaryngol. 2002;61:224-9. doi: 10.1159/000066813. Adv Otorhinolaryngol. 2002. PMID: 12408088 No abstract available.
Clinical presentation of DFNB12 and Usher syndrome type 1D.
Bork JM, Morell RJ, Khan S, Riazuddin S, Wilcox ER, Friedman TB, Griffith AJ. Bork JM, et al. Among authors: griffith aj. Adv Otorhinolaryngol. 2002;61:145-52. doi: 10.1159/000066829. Adv Otorhinolaryngol. 2002. PMID: 12408077 No abstract available.
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: griffith aj. Adv Otorhinolaryngol. 2011;70:43-49. doi: 10.1159/000322469. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358184 Review.
Clinical manifestations of DFNB29 deafness.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Ahmed ZM, et al. Among authors: griffith aj. Adv Otorhinolaryngol. 2002;61:156-60. doi: 10.1159/000066828. Adv Otorhinolaryngol. 2002. PMID: 12408079 No abstract available.
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI. Liberfarb RM, et al. Among authors: griffith aj. Genet Med. 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. Genet Med. 2003. PMID: 12544472 Free article. Review.
Stickler syndrome: clinical characteristics and diagnostic criteria.
Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA. Rose PS, et al. Among authors: griffith aj. Am J Med Genet A. 2005 Oct 15;138A(3):199-207. doi: 10.1002/ajmg.a.30955. Am J Med Genet A. 2005. PMID: 16152640
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
159 results