Riazuddin SA - Search Results

1

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Obaisi SA, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: riazuddin sa, riazuddin s. PLoS One. 2017 Mar 9;12(3):e0173719. doi: 10.1371/journal.pone.0173719. eCollection 2017. PLoS One. 2017. PMID: 28278293 Free PMC article.

2

Molecular characterization of beta-thalassemia in Pakistan.

Khan SN, Riazuddin S. Khan SN, et al. Hemoglobin. 1998 Jul;22(4):333-45. doi: 10.3109/03630269809071528. Hemoglobin. 1998. PMID: 9730364

3

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S. Ahmad J, et al. Hum Genet. 2005 Apr;116(5):407-12. doi: 10.1007/s00439-004-1247-y. Epub 2005 Feb 12. Hum Genet. 2005. PMID: 15711797

4

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Khan SY, et al. Among authors: riazuddin sa, riazuddin s. Hum Genet. 2007 Feb;120(6):789-93. doi: 10.1007/s00439-006-0275-1. Epub 2006 Oct 26. Hum Genet. 2007. PMID: 17066295

5

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.

Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA. Butt T, et al. Among authors: riazuddin sa, riazuddin s. Mol Vis. 2007 Sep 10;13:1635-40. Mol Vis. 2007. PMID: 17893665

6

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: riazuddin sa, riazuddin s. Mol Vis. 2010 Feb 16;16:240-5. Mol Vis. 2010. PMID: 20161816 Free PMC article.

7

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: riazuddin sa, riazuddin s. Mol Vis. 2010 Mar 24;16:511-7. Mol Vis. 2010. PMID: 20361013 Free PMC article.

8

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: riazuddin sa, riazuddin s. Mol Vis. 2010 Apr 15;16:682-8. Mol Vis. 2010. PMID: 20405025 Free PMC article.

9

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: riazuddin sa, riazuddin s. 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.

10

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

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