Riazuddin SA - Search Results

1

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N. Riazuddin SA, et al. Am J Hum Genet. 2010 Jan;86(1):45-53. doi: 10.1016/j.ajhg.2009.12.001. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036349 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

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB. Ahmed ZM, et al. Hum Genet. 2008 Oct;124(3):215-23. doi: 10.1007/s00439-008-0543-3. Epub 2008 Aug 22. Hum Genet. 2008. PMID: 18719945 Free PMC article.

5

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

Riazuddin SA, Eghrari AO, Al-Saif A, Davey L, Meadows DN, Katsanis N, Gottsch JD. Riazuddin SA, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5667-71. doi: 10.1167/iovs.09-3764. Epub 2009 Jul 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19608540

6

Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus.

Meadows DN, Eghrari AO, Riazuddin SA, Emmert DG, Katsanis N, Gottsch JD. Meadows DN, et al. Among authors: riazuddin sa. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5662-6. doi: 10.1167/iovs.09-3568. Epub 2009 Jul 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19608546

7

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Riazuddin S, et al. Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30. Am J Hum Genet. 2009. PMID: 19646679 Free PMC article.

8

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N. Riazuddin SA, et al. Among authors: riazuddin s. Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451172 Free PMC article.

9

Age-severity relationships in families linked to FCD2 with retroillumination photography.

McGlumphy EJ, Yeo WS, Riazuddin SA, Al-Saif A, Wang J, Eghrari AO, Meadows DN, Emmert DG, Katsanis N, Gottsch JD. McGlumphy EJ, et al. Among authors: riazuddin sa. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6298-302. doi: 10.1167/iovs.10-5187. Epub 2010 Sep 1. Invest Ophthalmol Vis Sci. 2010. PMID: 20811064 Free PMC article.

10

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N. Riazuddin SA, et al. Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14. Hum Mutat. 2010. PMID: 20848555 Free PMC article.

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