Khan SN - Search Results

1

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: khan sn. Arch Ophthalmol. 2010 Aug;128(8):1046-9. doi: 10.1001/archophthalmol.2010.165. Arch Ophthalmol. 2010. PMID: 20697006 Free PMC article.

2

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. Ain Q, et al. Among authors: khan sn. Hum Genet. 2007 Dec;122(5):445-50. doi: 10.1007/s00439-007-0418-z. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690910

3

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

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

4

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: khan m, khan sn. Mol Vis. 2010 Feb 16;16:240-5. Mol Vis. 2010. PMID: 20161816 Free PMC article.

5

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: khan sn. Mol Vis. 2010 Mar 24;16:511-7. Mol Vis. 2010. PMID: 20361013 Free PMC article.

6

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: khan m, khan sn. Mol Vis. 2010 Apr 15;16:682-8. Mol Vis. 2010. PMID: 20405025 Free PMC article.

7

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: khan sn. 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.

8

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.

Sabir N, Riazuddin SA, Butt T, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S. Sabir N, et al. Among authors: khan sn. Mol Vis. 2010 Dec 8;16:2634-8. Mol Vis. 2010. PMID: 21179239 Free PMC article.

9

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

Sabir N, Riazuddin SA, Kaul H, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S. Sabir N, et al. Among authors: khan sn. Mol Vis. 2010 Dec 30;16:2911-5. Mol Vis. 2010. PMID: 21203409 Free PMC article.

10

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.

Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. Naz S, et al. Among authors: khan sn. Br J Ophthalmol. 2011 Jul;95(7):1019-24. doi: 10.1136/bjo.2010.189076. Epub 2011 Mar 28. Br J Ophthalmol. 2011. PMID: 21447491 Free PMC article.

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