Kabir F - Search Results

1

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Ullah I, Kabir F, Gottsch CB, Naeem MA, Guru AA, Ayyagari R, Khan SN, Riazuddin S, Akram J, Riazuddin SA. Ullah I, et al. Among authors: kabir f. Hum Genome Var. 2016 Nov 17;3:16036. doi: 10.1038/hgv.2016.36. eCollection 2016. Hum Genome Var. 2016. PMID: 27917291 Free PMC article.

2

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Kabir F, et al. Mol Vis. 2016 Jun 10;22:610-25. eCollection 2016. Mol Vis. 2016. PMID: 27307693 Free PMC article.

3

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Ullah I, et al. Among authors: kabir f. Mol Vis. 2016 Jul 16;22:797-815. eCollection 2016. Mol Vis. 2016. PMID: 27440997 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: kabir f. 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

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.

Rauf B, Irum B, Khan SY, Kabir F, Naeem MA, Riazuddin S, Ayyagari R, Riazuddin SA. Rauf B, et al. Among authors: kabir f. Mol Vis. 2020 Feb 24;26:14-25. eCollection 2020. Mol Vis. 2020. PMID: 32165823 Free PMC article.

6

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Nadeem R, Kabir F, Li J, Gradstein L, Jiao X, Rauf B, Naeem MA, Assir MZ, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Nadeem R, et al. Among authors: kabir f. Hum Genome Var. 2020 May 12;7:14. doi: 10.1038/s41439-020-0100-8. eCollection 2020. Hum Genome Var. 2020. PMID: 32411380 Free PMC article.

7

[No title available]

[No authors listed] [No authors listed] PMID: 33419964

8

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

Kabir F, Naz S, Riazuddin SA, Naeem MA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Kabir F, et al. Mol Vis. 2013 Jul 19;19:1554-64. Print 2013. Mol Vis. 2013. PMID: 23878505 Free PMC article.

9

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

Jiao X, Kabir F, Irum B, Khan AO, Wang Q, Li D, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA. Jiao X, et al. Among authors: kabir f. PLoS One. 2016 Jun 21;11(6):e0157005. doi: 10.1371/journal.pone.0157005. eCollection 2016. PLoS One. 2016. PMID: 27326458 Free PMC article.

10

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: kabir f. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.

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