Hejtmancik JF - Search Results

1

Congenital Cataracts: Classification and Association With Anterior Segment Abnormalities.

Datiles MB, Hejtmancik JF. Datiles MB, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6396. doi: 10.1167/iovs.16-21074. Invest Ophthalmol Vis Sci. 2016. PMID: 27898986 Free PMC article. No abstract available.

2

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

3

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. Pras E, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5. doi: 10.1167/iovs.03-1117. Invest Ophthalmol Vis Sci. 2004. PMID: 15161861

4

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF. Smaoui N, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21. doi: 10.1167/iovs.03-1370. Invest Ophthalmol Vis Sci. 2004. PMID: 15277496

5

Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.

Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO. Jiao X, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4498-503. doi: 10.1167/iovs.04-0722. Invest Ophthalmol Vis Sci. 2004. PMID: 15557460

6

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

7

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

8

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

9

Increased sensitivity of amino-arm truncated betaA3-crystallin to UV-light-induced photoaggregation.

Sergeev YV, Soustov LV, Chelnokov EV, Bityurin NM, Backlund PS Jr, Wingfield PT, Ostrovsky MA, Hejtmancik JF. Sergeev YV, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3263-73. doi: 10.1167/iovs.05-0112. Invest Ophthalmol Vis Sci. 2005. PMID: 16123428

10

Analysis of ocular hypopigmentation in Rab38cht/cht mice.

Brooks BP, Larson DM, Chan CC, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik JF, Maminishkis A, John SW, Bush R, Pavan WJ. Brooks BP, et al. Among authors: hejtmancik jf. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13. doi: 10.1167/iovs.06-1464. Invest Ophthalmol Vis Sci. 2007. PMID: 17724166 Free PMC article.

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