Mahmood S - Search Results

1

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, Mahmood S. Shakil M, et al. Among authors: mahmood s. Genes (Basel). 2022 Mar 12;13(3):503. doi: 10.3390/genes13030503. Genes (Basel). 2022. PMID: 35328057 Free PMC article.

2

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S. Shakil M, et al. Among authors: mahmood s. Eye (Lond). 2019 Aug;33(8):1339-1346. doi: 10.1038/s41433-019-0436-9. Epub 2019 Apr 17. Eye (Lond). 2019. PMID: 30996339 Free PMC article. Review.

3

Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.

Shakil M, Ullah MI, Hussain S, Firasat S, Mahmood S, Kaul H. Shakil M, et al. Among authors: mahmood s. Int J Ophthalmol. 2016 May 18;9(5):794-6. doi: 10.18240/ijo.2016.05.28. eCollection 2016. Int J Ophthalmol. 2016. PMID: 27275442 Free PMC article. No abstract available.

4

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.

Shahzad MA, Khaliq S, Amar A, Mahmood S. Shahzad MA, et al. Among authors: mahmood s. J Mol Neurosci. 2017 Sep;63(1):84-90. doi: 10.1007/s12031-017-0959-0. Epub 2017 Aug 10. J Mol Neurosci. 2017. PMID: 28799099

5

Genetic association of insulin receptor substrate-1 (IRS-1, rs1801278) gene with insulin resistant of type 2 diabetes mellitus in a Pakistani population.

Albegali AA, Shahzad M, Mahmood S, Ullah MI. Albegali AA, et al. Among authors: mahmood s. Mol Biol Rep. 2019 Dec;46(6):6065-6070. doi: 10.1007/s11033-019-05041-w. Epub 2019 Aug 24. Mol Biol Rep. 2019. PMID: 31446532

6

Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort.

Sattar A, Hussain S, Ullah MI, Mahmood S, Mohsin S. Sattar A, et al. Among authors: mahmood s. Turk J Haematol. 2017 Aug 2;34(3):278-279. doi: 10.4274/tjh.2017.0031. Epub 2017 Mar 15. Turk J Haematol. 2017. PMID: 28294101 Free PMC article. No abstract available.

7

Association of genetic polymorphism of PC-1 gene (rs1044498 Lys121Gln) with insulin-resistant type 2 diabetes mellitus in Punjabi Population of Pakistan.

Albegali AA, Shahzad M, Ullah MI, Mahmood S, Rashid M. Albegali AA, et al. Among authors: mahmood s. Mol Genet Genomic Med. 2019 Aug;7(8):e775. doi: 10.1002/mgg3.775. Epub 2019 Jun 28. Mol Genet Genomic Med. 2019. PMID: 31250990 Free PMC article.

8

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ. Ullah MI, et al. Among authors: mahmood s. Saudi Med J. 2017 Dec;38(12):1190-1195. doi: 10.15537/smj.2017.12.20989. Saudi Med J. 2017. PMID: 29209666 Free PMC article.

9

PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study.

Rauff B, Alzahrani B, Chudhary SA, Nasir B, Mahmood S, Bhinder MA, Faheem M, Amar A. Rauff B, et al. Among authors: mahmood s. BMC Gastroenterol. 2022 Aug 26;22(1):401. doi: 10.1186/s12876-022-02469-6. BMC Gastroenterol. 2022. PMID: 36028802 Free PMC article.

10

Interferon-λ rs12979860 genotype association with liver fibrosis in chronic hepatitis C (CHC) patients in the Pakistani population.

Rauff B, Amar A, Chudhary SA, Mahmood S, Tayyab GUN, Hanif R. Rauff B, et al. Among authors: mahmood s. Arch Virol. 2021 Apr;166(4):1047-1056. doi: 10.1007/s00705-020-04901-2. Epub 2021 Feb 2. Arch Virol. 2021. PMID: 33528661

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