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Page 1
Genetic analysis of consanguineous families presenting with congenital ocular defects.
Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A. Ullah E, et al. Among authors: khan ma. Exp Eye Res. 2016 May;146:163-171. doi: 10.1016/j.exer.2016.03.014. Epub 2016 Mar 16. Exp Eye Res. 2016. PMID: 26995144
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: khan ma. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 Free PMC article.
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Ma A, Zhou J, Ali H, Abbas T, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, Zhao D, Zhang B, Zhang Y, Shah W, Shah B, Murtaza G, Iqbal F, Khan MA, Khan A, Li Q, Xu B, Wu L, Zhang H, Shi Q. Ma A, et al. Among authors: khan ma, khan a, ma h. JCI Insight. 2023 Feb 8;8(3):e166869. doi: 10.1172/jci.insight.166869. JCI Insight. 2023. PMID: 36752199 Free PMC article.
A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia.
Ali I, Ali H, Unar A, Rahim F, Khan K, Dil S, Abbas T, Hussain A, Zeb A, Zubair M, Zhang H, Ma H, Jiang X, Khan MA, Xu B, Shah W, Shi Q. Ali I, et al. Among authors: khan ma, khan k, ma h. Mol Genet Genomics. 2024 Jul 12;299(1):69. doi: 10.1007/s00438-024-02161-2. Mol Genet Genomics. 2024. PMID: 38992144
6,546 results