Akram J - Search Results

1

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.

Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Ali S, et al. Among authors: akram j. Mol Vis. 2011;17:1373-80. Epub 2011 May 25. Mol Vis. 2011. PMID: 21655355 Free PMC article.

2

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Riazuddin S, et al. Among authors: akram j. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26. Mol Psychiatry. 2017. PMID: 27457812 Free PMC article.

3

A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Kaul H, Riazuddin SA, Yasmeen A, Mohsin S, Khan M, Nasir IA, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Kaul H, et al. Among authors: akram j. Mol Vis. 2010 Feb 16;16:240-5. Mol Vis. 2010. PMID: 20161816 Free PMC article.

4

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Kaul H, et al. Among authors: akram j. Mol Vis. 2010 Mar 24;16:511-7. Mol Vis. 2010. PMID: 20361013 Free PMC article.

5

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Yasmeen A, et al. Among authors: akram j. Mol Vis. 2010 Apr 15;16:682-8. Mol Vis. 2010. PMID: 20405025 Free PMC article.

6

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

Shahzadi A, Riazuddin SA, Ali S, Li D, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S. Shahzadi A, et al. Among authors: akram j. Br J Ophthalmol. 2010 Aug;94(8):1094-9. doi: 10.1136/bjo.2009.171892. Epub 2010 Jun 10. Br J Ophthalmol. 2010. PMID: 20538656 Free PMC article.

7

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Kaul H, Riazuddin SA, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Kaul H, et al. Among authors: akram j. Arch Ophthalmol. 2010 Aug;128(8):1046-9. doi: 10.1001/archophthalmol.2010.165. Arch Ophthalmol. 2010. PMID: 20697006 Free PMC article.

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. Among authors: akram j. Mol Vis. 2013 Jul 19;19:1554-64. Print 2013. Mol Vis. 2013. PMID: 23878505 Free PMC article.

9

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: akram j. Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015. Mol Vis. 2015. PMID: 26321862 Free PMC article.

10

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA. Jiao X, et al. Among authors: akram j. PLoS One. 2015 Sep 24;10(9):e0137973. doi: 10.1371/journal.pone.0137973. eCollection 2015. PLoS One. 2015. PMID: 26402864 Free PMC article.

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