Shaikh RS - Search Results

1

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Iqbal F, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM. Jaworek TJ, et al. Among authors: shaikh rs. Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44. Orphanet J Rare Dis. 2012. PMID: 22734612 Free PMC article.

2

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. Among authors: shaikh rs. 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

3

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

Shaikh RS, Ramzan K, Nazli S, Sattar S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S. Shaikh RS, et al. Am J Med Genet A. 2005 Nov 1;138(4):392-5. doi: 10.1002/ajmg.a.30949. Am J Med Genet A. 2005. PMID: 16158433 Free PMC article. No abstract available.

4

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. Riazuddin S, et al. Among authors: shaikh rs. Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677. Hum Mutat. 2008. PMID: 18181211

5

Frequency distribution of GSTM1 and GSTT1 null allele in Pakistani population and risk of disease incidence.

Shaikh RS, Amir M, Masood AI, Sohail A, Athar HU, Siraj S, Ali M, Anjam MS. Shaikh RS, et al. Environ Toxicol Pharmacol. 2010 Jul;30(1):76-9. doi: 10.1016/j.etap.2010.04.002. Epub 2010 Apr 27. Environ Toxicol Pharmacol. 2010. PMID: 21787632

6

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.

Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM. Kausar T, et al. Among authors: shaikh rs. Clin Genet. 2013 Jul;84(1):91-3. doi: 10.1111/cge.12019. Epub 2012 Oct 10. Clin Genet. 2013. PMID: 23050561 No abstract available.

7

Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.

Kausar T, Jaworek TJ, Tariq N, Sadia S, Ali M, Shaikh RS, Ahmed ZM. Kausar T, et al. Among authors: shaikh rs. J Invest Dermatol. 2013 Apr;133(4):1099-102. doi: 10.1038/jid.2012.432. Epub 2012 Nov 29. J Invest Dermatol. 2013. PMID: 23190901 Free article. No abstract available.

8

Effects of glutathione-S-transferase polymorphisms on the risk of breast cancer: a population-based case-control study in Pakistan.

Sohail A, Kanwal N, Ali M, Sadia S, Masood AI, Ali F, Iqbal F, Crickmore N, Shaikh RS, Sayyed AH. Sohail A, et al. Among authors: shaikh rs. Environ Toxicol Pharmacol. 2013 Mar;35(2):143-53. doi: 10.1016/j.etap.2012.11.014. Epub 2012 Dec 16. Environ Toxicol Pharmacol. 2013. PMID: 23376175

9

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Shaikh RS, et al. Eur J Hum Genet. 2015 Apr;23(4):473-80. doi: 10.1038/ejhg.2014.136. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052312 Free PMC article.

10

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F; University of Washington Center for Mendelian Genomics; Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Shahzad M, et al. Among authors: shaikh rs. Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22. Pigment Cell Melanoma Res. 2015. PMID: 26197705 Free PMC article.

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