Hejtmancik JF - Search Results

1

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: hejtmancik jf. Mol Vis. 2007 Sep 10;13:1635-40. Mol Vis. 2007. PMID: 17893665

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

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2004 Nov 17;10:890-900. Mol Vis. 2004. PMID: 15570218 Free article.

4

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

5

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

6

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

7

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2005 Jul 22;11:554-60. Mol Vis. 2005. PMID: 16052171 Free article.

8

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.

9

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.

10

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nürnberg P, Singh D, Sperling K, Singh JR. Vanita V, et al. Among authors: hejtmancik jf. Mol Vis. 2006 Feb 21;12:93-9. Mol Vis. 2006. PMID: 16518306 Free article.

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