Jelani M - Search Results

1

Genetic variations in drug-metabolizing enzyme CYP2C9 among major ethnic groups of Pakistani population.

Hizbullah, Ahmed S, Noor Mumtaz M, Zulfiqar Z, Amir Hamza S, Siraj S, Jelani M, Imran I, Khan A. Hizbullah, et al. Among authors: jelani m. Gene. 2020 Jul 1;746:144659. doi: 10.1016/j.gene.2020.144659. Epub 2020 Apr 7. Gene. 2020. PMID: 32276000 Clinical Trial.

2

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.

Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J. Jelani M, et al. Brain. 2019 May 1;142(5):1242-1254. doi: 10.1093/brain/awz075. Brain. 2019. PMID: 30968111 Free PMC article.

3

Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.

Alrayes N, Aziz A, Ullah F, Ishfaq M, Jelani M, Wali A. Alrayes N, et al. Among authors: jelani m. J Gene Med. 2020 Jan;22(1):e3143. doi: 10.1002/jgm.3143. Epub 2020 Jan 3. J Gene Med. 2020. PMID: 31750994

4

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: jelani 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

5

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M. Zaman Q, et al. Among authors: jelani m. J Gene Med. 2023 Oct;25(10):e3522. doi: 10.1002/jgm.3522. Epub 2023 Apr 29. J Gene Med. 2023. PMID: 37119015

6

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: jelani m. J Gene Med. 2021 Jan;23(1):e3279. doi: 10.1002/jgm.3279. Epub 2020 Oct 27. J Gene Med. 2021. PMID: 32989887

7

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.

Jelani M, Salman Chishti M, Ahmad W. Jelani M, et al. Clin Exp Dermatol. 2009 Jan;34(1):68-73. doi: 10.1111/j.1365-2230.2008.02933.x. Clin Exp Dermatol. 2009. PMID: 19076794

8

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.

Sadia, Foo JN, Khor CC, Jelani M, Ali G. Sadia, et al. Among authors: jelani m. J Gene Med. 2019 Sep;21(9):e3113. doi: 10.1002/jgm.3113. Epub 2019 Aug 5. J Gene Med. 2019. PMID: 31310406

9

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

Ali G, Awan NB, Sadia, Khawaja AW, Foo JN, Khor CC, Chang CH, Chew EG, Kiani FR, Jelani M. Ali G, et al. Among authors: jelani m. J Gene Med. 2020 May;22(5):e3167. doi: 10.1002/jgm.3167. Epub 2020 Feb 17. J Gene Med. 2020. PMID: 32020700

10

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Bakar A, Shams S, Bibi N, Ullah A, Ahmad W, Jelani M, Muthaffar OY, Abdulkareem AA, Abujamel TS, Haque A, Naseer MI, Khan B. Bakar A, et al. Among authors: jelani m. Genes (Basel). 2023 Feb 17;14(2):510. doi: 10.3390/genes14020510. Genes (Basel). 2023. PMID: 36833437 Free PMC article.

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