Latif M - Search Results

1

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

Khan MI, Latif M, Saif M, Ahmad H, Khan AU, Naseer MI, Hussain HMJ, Jelani M. Khan MI, et al. Among authors: latif m. J Gene Med. 2021 Jan;23(1):e3279. doi: 10.1002/jgm.3279. Epub 2020 Oct 27. J Gene Med. 2021. PMID: 32989887

2

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Albarry MA, Latif M, Alreheli AQ, Awadh MA, Almatrafi AM, Albalawi AM, Basit S. Albarry MA, et al. Among authors: latif m. PLoS One. 2021 Feb 11;16(2):e0246607. doi: 10.1371/journal.pone.0246607. eCollection 2021. PLoS One. 2021. PMID: 33571247 Free PMC article.

3

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Khan AU, Khan I, Khan MI, Latif M, Siddiqui MI, Khan SU, Htar TT, Wahid G, Ullah I, Bibi F, Khan A, Naseer MI, Seo GH, Jelani M. Khan AU, et al. Among authors: latif m. Am J Med Genet A. 2022 Sep;188(9):2693-2700. doi: 10.1002/ajmg.a.62856. Epub 2022 Jun 15. Am J Med Genet A. 2022. PMID: 35703069

4

A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.

Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Makitie O, Iqbal F, Naz S. Yasin S, et al. Among authors: latif m. Eur J Med Genet. 2020 Aug;63(8):103958. doi: 10.1016/j.ejmg.2020.103958. Epub 2020 May 26. Eur J Med Genet. 2020. PMID: 32470407

5

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Mustafa S, Akhtar Z, Latif M, Hassan M, Faisal M, Iqbal F. Mustafa S, et al. Among authors: latif m. Genes Genomics. 2020 Aug;42(8):847-854. doi: 10.1007/s13258-020-00955-3. Epub 2020 Jun 6. Genes Genomics. 2020. PMID: 32506268 Free PMC article.

6

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Latif M, Hashmi JA, Alayoubi AM, Ayub A, Basit S. Latif M, et al. J Clin Med. 2024 Feb 20;13(5):1193. doi: 10.3390/jcm13051193. J Clin Med. 2024. PMID: 38592052 Free PMC article.

7

Biochemical analysis of oral fluids for disease detection.

Khurshid Z, Warsi I, Moin SF, Slowey PD, Latif M, Zohaib S, Zafar MS. Khurshid Z, et al. Among authors: latif m. Adv Clin Chem. 2021;100:205-253. doi: 10.1016/bs.acc.2020.04.005. Epub 2020 Jul 10. Adv Clin Chem. 2021. PMID: 33453866 Review.

8

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.

Waqas A, Nayab A, Shaheen S, Abbas S, Latif M, Rafeeq MM, Al-Dhuayan IS, Alqosaibi AI, Alnamshan MM, Sain ZM, Habib AH, Alam Q, Umair M, Saqib MAN. Waqas A, et al. Among authors: latif m. Front Genet. 2022 Apr 28;13:878274. doi: 10.3389/fgene.2022.878274. eCollection 2022. Front Genet. 2022. PMID: 35571055 Free PMC article.

9

First macrocyclic 3^rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib.

Basit S, Ashraf Z, Lee K, Latif M. Basit S, et al. Among authors: latif m. Eur J Med Chem. 2017 Jul 7;134:348-356. doi: 10.1016/j.ejmech.2017.04.032. Epub 2017 Apr 13. Eur J Med Chem. 2017. PMID: 28431340 Review.

10

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant.

Hashmi JA, Almatrafi A, Latif M, Nasir A, Basit S. Hashmi JA, et al. Among authors: latif m. Eur J Med Genet. 2019 Feb;62(2):124-128. doi: 10.1016/j.ejmg.2018.06.013. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960047

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