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A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: naeem ma. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R. Maranhao B, et al. Among authors: naeem ma. PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015. PLoS One. 2015. PMID: 26352687 Free PMC article.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: naeem ma. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: naeem ma. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. Li L, et al. Among authors: naeem ma, ma z, ma x, ma y. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Invest Ophthalmol Vis Sci. 2017. PMID: 28418496 Free PMC article.
231 results