Hejtmancik JF - Search Results

1

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. Riazuddin SA, et al. Among authors: hejtmancik jf. Am J Hum Genet. 2010 Oct 8;87(4):523-31. doi: 10.1016/j.ajhg.2010.08.013. Epub 2010 Sep 16. Am J Hum Genet. 2010. PMID: 20850105 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

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

4

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

5

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.

6

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.

7

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

8

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

9

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.

10

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Jiao X, et al. Among authors: hejtmancik jf. Am J Hum Genet. 2004 Nov;75(5):878-84. doi: 10.1086/425080. Epub 2004 Sep 2. Am J Hum Genet. 2004. PMID: 15346351 Free PMC article.

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