Hejtmancik JF - Search Results

1

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

2

Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.

Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Padma T, et al. Among authors: hejtmancik jf. Am J Hum Genet. 1995 Oct;57(4):840-5. Am J Hum Genet. 1995. PMID: 7573044 Free PMC article.

3

Autosomal dominant congenital cataract. Interocular phenotypic variability.

Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Scott MH, et al. Among authors: hejtmancik jf. Ophthalmology. 1994 May;101(5):866-71. doi: 10.1016/s0161-6420(94)31246-2. Ophthalmology. 1994. PMID: 8190472

4

Autosomal dominant zonular cataract with sutural opacities in a four-generation family.

Basti S, Hejtmancik JF, Padma T, Ayyagari R, Kaiser-Kupfer MI, Murty JS, Rao GN. Basti S, et al. Among authors: hejtmancik jf. Am J Ophthalmol. 1996 Feb;121(2):162-8. doi: 10.1016/s0002-9394(14)70580-x. Am J Ophthalmol. 1996. PMID: 8623885

5

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Kannabiran C, et al. Among authors: hejtmancik jf. Mol Vis. 1998 Oct 23;4:21. Mol Vis. 1998. PMID: 9788845 Free article.

6

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF. Ren Z, et al. Among authors: hejtmancik jf. Hum Genet. 2000 May;106(5):531-7. doi: 10.1007/s004390000289. Hum Genet. 2000. PMID: 10914683 Free article.

7

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Jiao X, et al. Among authors: hejtmancik jf. Am J Hum Genet. 2000 Nov;67(5):1309-13. doi: 10.1016/S0002-9297(07)62960-7. Epub 2000 Sep 21. Am J Hum Genet. 2000. PMID: 11001583 Free PMC article.

8

The metabolism of fatty acids in human Bietti crystalline dystrophy.

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. Lee J, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1707-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11431432

9

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.

Ren Z, Lin PY, Klintworth GK, Iwata F, Munier FL, Schorderet DF, El Matri L, Theendakara V, Basti S, Reddy M, Hejtmancik JF. Ren Z, et al. Among authors: hejtmancik jf. Hum Genet. 2002 Jun;110(6):568-77. doi: 10.1007/s00439-002-0729-z. Epub 2002 Apr 20. Hum Genet. 2002. PMID: 12107443

10

Molecular genetics of cataract.

Hejtmancik JF, Smaoui N. Hejtmancik JF, et al. Dev Ophthalmol. 2003;37:67-82. doi: 10.1159/000072039. Dev Ophthalmol. 2003. PMID: 12876830 Review.

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