Hejtmancik JF - Search Results

1

Mutations in FYCO1 identified in families with congenital cataracts.

Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: hejtmancik jf. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.

2

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.

3

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.

4

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Li A, et al. Among authors: hejtmancik jf. Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23. Am J Hum Genet. 2004. PMID: 15042513 Free PMC article.

5

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

6

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

7

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2004 Nov 17;10:884-9. Mol Vis. 2004. PMID: 15570217 Free article.

8

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Zhang Q, et al. Among authors: hejtmancik jf. Mol Vis. 2004 Nov 17;10:890-900. Mol Vis. 2004. PMID: 15570218 Free article.

9

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

10

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

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