Ali MZ - Search Results

1

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. Among authors: ali mz. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.

2

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Gul H, Ali MZ, Khan E, Zubair M, Badar M, Khan S, Shah AH, Khan MA. Gul H, et al. Among authors: ali mz. J Pak Med Assoc. 2017 May;67(5):790-792. J Pak Med Assoc. 2017. PMID: 28507374

3

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z. Khan MA, et al. Among authors: ali mz. J Genet. 2017 Jun;96(2):383-387. doi: 10.1007/s12041-017-0759-x. J Genet. 2017. PMID: 28674240 Free article.

4

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA. Gul H, et al. Among authors: ali mz. Ann Hum Genet. 2019 Jul;83(4):278-284. doi: 10.1111/ahg.12307. Epub 2019 Mar 13. Ann Hum Genet. 2019. PMID: 30868578

5

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Ali MZ, Blatterer J, Khan MA, Schaflinger E, Petek E, Ahmad S, Khan E, Windpassinger C. Ali MZ, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1060. doi: 10.1002/mgg3.1060. Epub 2020 Jan 10. Mol Genet Genomic Med. 2020. PMID: 31923348 Free PMC article.

6

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA. Muzammal M, et al. Among authors: ali mz. Ann Hum Genet. 2021 Sep;85(5):147-154. doi: 10.1111/ahg.12425. Epub 2021 Apr 21. Ann Hum Genet. 2021. PMID: 33881165 Review.

7

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Muzammal M, Ali MZ, Brugger B, Blatterer J, Ahmad S, Taj S, Shah SK, Khan S, Enzinger C, Petek E, Wagner K, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: ali mz. Metab Brain Dis. 2022 Jan;37(1):243-252. doi: 10.1007/s11011-021-00832-2. Epub 2021 Nov 1. Metab Brain Dis. 2022. PMID: 34719772 Free PMC article.

8

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene.

Ali MZ, Farid A, Ahmad S, Muzammal M, Mohaini MA, Alsalman AJ, Al Hawaj MA, Alhashem YN, Alsaleh AA, Almusalami EM, Maryam M, Khan MA. Ali MZ, et al. Genes (Basel). 2022 Apr 11;13(4):672. doi: 10.3390/genes13040672. Genes (Basel). 2022. PMID: 35456478 Free PMC article.

9

The molecular genetics of human appendicular skeleton.

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA. Ahmad S, et al. Among authors: ali mz. Mol Genet Genomics. 2022 Sep;297(5):1195-1214. doi: 10.1007/s00438-022-01930-1. Epub 2022 Jul 30. Mol Genet Genomics. 2022. PMID: 35907958

10

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S, Ali MZ, Abbasi SW, Abbas S, Ahmed I, Abbas S, Nawaz S, Ziab M, Ahmed I, Fakhro KA, Khan MA, Akil AA. Ahmad S, et al. Among authors: ali mz. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36960394 Free PMC article.

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