Hejtmancik JF - Search Results

1

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: hejtmancik jf. 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.

2

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2004 Nov 17;10:884-9. Mol Vis. 2004. PMID: 15570217 Free article.

3

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF. Riazuddin SA, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6. doi: 10.1167/iovs.04-0955. Invest Ophthalmol Vis Sci. 2005. PMID: 15671291

4

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Riazuddin SA, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. doi: 10.1167/iovs.04-1481. Invest Ophthalmol Vis Sci. 2005. PMID: 15914629

5

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF. Riazuddin SA, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70. doi: 10.1167/iovs.04-1280. Invest Ophthalmol Vis Sci. 2005. PMID: 15980210

6

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Hum Genet. 2005 Dec;118(3-4):356-65. doi: 10.1007/s00439-005-0054-4. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189710 Free article.

7

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2005 Nov 14;11:977-85. Mol Vis. 2005. PMID: 16319817 Free article.

8

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

Singh HP, Jalali S, Hejtmancik JF, Kannabiran C. Singh HP, et al. Among authors: hejtmancik jf. Am J Ophthalmol. 2006 May;141(5):906-13. doi: 10.1016/j.ajo.2005.12.009. Epub 2006 Mar 20. Am J Ophthalmol. 2006. PMID: 16546111

9

Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF. Riazuddin SA, et al. Among authors: hejtmancik jf. Mol Vis. 2006 Oct 26;12:1283-91. Mol Vis. 2006. PMID: 17110911 Free article.

10

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Hum Genet. 2007 Nov;122(3-4):293-9. doi: 10.1007/s00439-007-0395-2. Epub 2007 Jun 29. Hum Genet. 2007. PMID: 17605048

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