Riazuddin SA - Search Results

1

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: riazuddin sa, riazuddin s. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.

2

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029

3

Mutations of MYO6 are associated with recessive deafness, DFNB37.

Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: riazuddin s. Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687499 Free PMC article.

4

The molecular genetics of Usher syndrome.

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. Ahmed ZM, et al. Clin Genet. 2003 Jun;63(6):431-44. doi: 10.1034/j.1399-0004.2003.00109.x. Clin Genet. 2003. PMID: 12786748 Review.

5

Some deafness-causing mutations can be silenced with the appropriate gene partner.

Wilcox E, Riazuddin S, Riazuddin S. Wilcox E, et al. ScientificWorldJournal. 2001 May 1;1:202-3. doi: 10.1100/tsw.2001.40. ScientificWorldJournal. 2001. PMID: 12805671 Free PMC article. Review.

6

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. Ahmed ZM, et al. Hum Mol Genet. 2003 Dec 15;12(24):3215-23. doi: 10.1093/hmg/ddg358. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570705

7

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.

Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB. Naz S, et al. J Med Genet. 2004 Aug;41(8):591-5. doi: 10.1136/jmg.2004.018523. J Med Genet. 2004. PMID: 15286153 Free PMC article.

8

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S. Ramzan K, et al. Hum Genet. 2005 Jan;116(1-2):17-22. doi: 10.1007/s00439-004-1205-8. Epub 2004 Nov 6. Hum Genet. 2005. PMID: 15538632

9

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: riazuddin sa, riazuddin s. Mol Vis. 2004 Nov 17;10:884-9. Mol Vis. 2004. PMID: 15570217 Free article.

10

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF. Riazuddin SA, et al. Among authors: riazuddin s. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6. doi: 10.1167/iovs.04-0955. Invest Ophthalmol Vis Sci. 2005. PMID: 15671291

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