Firasat S - Search Results

1

Null mutations in LTBP2 cause primary congenital glaucoma.

Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Ali M, et al. Among authors: firasat s. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361779 Free PMC article.

2

Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S. Firasat S, et al. Mol Vis. 2008 Sep 5;14:1659-65. Mol Vis. 2008. PMID: 18776954 Free PMC article.

3

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Firasat S, Riazuddin SA, Khan SN, Riazuddin S. Firasat S, et al. Mol Vis. 2008;14:2002-9. Epub 2008 Nov 3. Mol Vis. 2008. PMID: 18989382 Free PMC article.

4

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Rauf B, Irum B, Kabir F, Firasat S, Naeem MA, Khan SN, Husnain T, Riazuddin S, Akram J, Riazuddin SA. Rauf B, et al. Among authors: firasat s. Hum Genome Var. 2016 Aug 4;3:16021. doi: 10.1038/hgv.2016.21. eCollection 2016. Hum Genome Var. 2016. PMID: 27508083 Free PMC article.

5

In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.

Firasat S, Kaul H, Ashfaq UA, Idrees S. Firasat S, et al. Int Ophthalmol. 2018 Apr;38(2):807-814. doi: 10.1007/s10792-017-0508-4. Epub 2017 Apr 6. Int Ophthalmol. 2018. PMID: 28386709

6

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal R, Firasat S, Kaul H, Ahmed B, Siddiqui SN, Zafar SN, Shahzadi M, Afshan K. Afzal R, et al. Among authors: firasat s. Congenit Anom (Kyoto). 2019 Sep;59(5):152-161. doi: 10.1111/cga.12312. Epub 2018 Oct 15. Congenit Anom (Kyoto). 2019. PMID: 30270463

7

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Tehreem R, Arooj A, Siddiqui SN, Naz S, Afshan K, Firasat S. Tehreem R, et al. Among authors: firasat s. PLoS One. 2022 Sep 9;17(9):e0274335. doi: 10.1371/journal.pone.0274335. eCollection 2022. PLoS One. 2022. PMID: 36083974 Free PMC article.

8

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K. Firasat S, et al. Mol Biol Rep. 2021 Nov;48(11):7467-7476. doi: 10.1007/s11033-021-06765-4. Epub 2021 Oct 12. Mol Biol Rep. 2021. PMID: 34637099 Clinical Trial.

9

Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.

Shahzadi M, Firasat S, Kaul H, Afshan K, Afzal R, Naz S. Shahzadi M, et al. Among authors: firasat s. J Pak Med Assoc. 2020 Mar;70(3):515-518. doi: 10.5455/JPMA.302440. J Pak Med Assoc. 2020. PMID: 32207437

10

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.

Iqbal A, Naz S, Kaul H, Sharif S, Khushbakht A, Naeem MA, Iqtedar M, Kaleem A, Firasat S, Manzoor F. Iqbal A, et al. Among authors: firasat s. PLoS One. 2022 Aug 29;17(8):e0273685. doi: 10.1371/journal.pone.0273685. eCollection 2022. PLoS One. 2022. PMID: 36037197 Free PMC article.

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