Hejtmancik JF - Search Results

1

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

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

Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families.

Towbin JA, Li H, Taggart RT, Lehmann MH, Schwartz PJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF. Towbin JA, et al. Among authors: hejtmancik jf. Circulation. 1994 Dec;90(6):2635-44. doi: 10.1161/01.cir.90.6.2635. Circulation. 1994. PMID: 7994803

4

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

5

Glutathione S-transferase M1 genotype and age-related cataracts. Lack of association in an Italian population.

Alberti G, Oguni M, Podgor M, Sperduto RD, Tomarev S, Grassi C, Williams S, Kaiser-Kupfer M, Maraini G, Hejtmancik JF. Alberti G, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 1996 May;37(6):1167-73. Invest Ophthalmol Vis Sci. 1996. PMID: 8631631

6

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

Ayyagari R, Nestorowicz A, Li Y, Chandrasekharappa S, Chinault C, van Tuinen P, Smith RJ, Hejtmancik JF, Permutt MA. Ayyagari R, et al. Among authors: hejtmancik jf. Genome Res. 1996 Jun;6(6):504-14. doi: 10.1101/gr.6.6.504. Genome Res. 1996. PMID: 8828039 Free article.

7

Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis.

Ayyagari R, Li Y, Smith RJ, Pelias MZ, Hejtmancik JF. Ayyagari R, et al. Among authors: hejtmancik jf. Mol Vis. 1995 Oct 25;1:2. Mol Vis. 1995. PMID: 9238080 Free article.

8

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.

Edwards AO, Klein ML, Berselli CB, Hejtmancik JF, Rust K, Wirtz MK, Weleber RG, Acott TS. Edwards AO, et al. Among authors: hejtmancik jf. Am J Ophthalmol. 1998 Sep;126(3):417-24. doi: 10.1016/s0002-9394(98)00097-x. Am J Ophthalmol. 1998. PMID: 9744375

9

Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ. Lee J, et al. Among authors: hejtmancik jf. Mol Genet Metab. 1998 Oct;65(2):143-54. doi: 10.1006/mgme.1998.2723. Mol Genet Metab. 1998. PMID: 9787106

10

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.

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