Hejtmancik JF - Search Results

1

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: hejtmancik jf. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.

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 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

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.

6

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.

7

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.

8

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.

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

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Jiao X, Munier FL, Schorderet DF, Zografos L, Smith J, Rubin B, Hejtmancik JF. Jiao X, et al. Among authors: hejtmancik jf. Hum Genet. 2003 May;112(5-6):593-9. doi: 10.1007/s00439-002-0905-1. Epub 2003 Feb 27. Hum Genet. 2003. PMID: 12607114

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