Daud S - Search Results

1

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G. Kakar N, et al. Among authors: daud s. Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22989526

2

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch DM, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C. Borck G, et al. Among authors: daud s. Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15. Hum Genet. 2012. PMID: 21761136

3

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Among authors: daud s. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

4

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J. Hussain R, et al. Among authors: daud s. Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5. Mol Biol Rep. 2012. PMID: 22219087

5

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F. Ahmad J, et al. Among authors: daud s. Clin Genet. 2012 Dec;82(6):594-8. doi: 10.1111/j.1399-0004.2012.01869.x. Epub 2012 Apr 8. Clin Genet. 2012. PMID: 22486713 No abstract available.

6

Various aspects, patterns and risk factors in breast cancer patients of Balochistan.

Baloch AH, Shuja J, Daud S, Ahmed M, Ahmad A, Tareen M, Khan F, Kakar MA, Baloch DM, Kakar N, Naseeb HK, Ahmad J. Baloch AH, et al. Among authors: daud s. Asian Pac J Cancer Prev. 2012;13(8):4013-6. doi: 10.7314/apjcp.2012.13.8.4013. Asian Pac J Cancer Prev. 2012. PMID: 23098509 Free article.

7

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J. Baloch AH, et al. Among authors: daud s. Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4. Mol Biol Rep. 2014. PMID: 24390236

8

Risk factors for lung cancer in the Pakistani population.

Luqman M, Javed MM, Daud S, Raheem N, Ahmad J, Khan AU. Luqman M, et al. Among authors: daud s. Asian Pac J Cancer Prev. 2014;15(7):3035-9. doi: 10.7314/apjcp.2014.15.7.3035. Asian Pac J Cancer Prev. 2014. PMID: 24815443 Free article.

9

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

Shah SA, Din SU, Raheem N, Daud S, Mubeen J, Nadeem A, Tayyab M, Baloch DM, Babar ME, Ahmad J. Shah SA, et al. Among authors: daud s. Clin Exp Dermatol. 2014 Jul;39(5):646-8. doi: 10.1111/ced.12382. Clin Exp Dermatol. 2014. PMID: 24934919

10

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J. Shah SA, et al. Among authors: daud s. Clin Exp Dermatol. 2015 Oct;40(7):774-80. doi: 10.1111/ced.12612. Epub 2015 Feb 22. Clin Exp Dermatol. 2015. PMID: 25703744

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