Hejtmancik JF - Search Results

1

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

2

Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population.

Hejtmancik JF, Brink PA, Towbin J, Hill R, Brink L, Tapscott T, Trakhtenbroit A, Roberts R. Hejtmancik JF, et al. Circulation. 1991 May;83(5):1592-7. doi: 10.1161/01.cir.83.5.1592. Circulation. 1991. PMID: 2022018

3

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. Towbin JA, et al. Among authors: hejtmancik jf. Circulation. 1993 Jun;87(6):1854-65. doi: 10.1161/01.cir.87.6.1854. Circulation. 1993. PMID: 8504498

4

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.

5

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: hejtmancik jf. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.

6

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.

7

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

8

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.

9

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. Li L, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Invest Ophthalmol Vis Sci. 2017. PMID: 28418496 Free PMC article.

10

Exclusion of Usher syndrome gene from much of chromosome 4.

Smith RJ, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot DD, Hejtmancik JF. Smith RJ, et al. Among authors: hejtmancik jf. Cytogenet Cell Genet. 1989;50(2-3):102-6. doi: 10.1159/000132733. Cytogenet Cell Genet. 1989. PMID: 2776474

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