Gottsch JD - Search Results

1

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.

Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD. Riazuddin SA, et al. Among authors: gottsch jd. Am J Hum Genet. 2012 Mar 9;90(3):533-9. doi: 10.1016/j.ajhg.2012.01.013. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341973 Free PMC article.

2

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

Riazuddin SA, Eghrari AO, Al-Saif A, Davey L, Meadows DN, Katsanis N, Gottsch JD. Riazuddin SA, et al. Among authors: gottsch jd. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5667-71. doi: 10.1167/iovs.09-3764. Epub 2009 Jul 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19608540

3

Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus.

Meadows DN, Eghrari AO, Riazuddin SA, Emmert DG, Katsanis N, Gottsch JD. Meadows DN, et al. Among authors: gottsch jd. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5662-6. doi: 10.1167/iovs.09-3568. Epub 2009 Jul 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19608546

4

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N. Riazuddin SA, et al. Among authors: gottsch jd. Am J Hum Genet. 2010 Jan;86(1):45-53. doi: 10.1016/j.ajhg.2009.12.001. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036349 Free PMC article.

5

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.

Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N. Riazuddin SA, et al. Among authors: gottsch jd. Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14. Hum Mutat. 2010. PMID: 20848555 Free PMC article.

6

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD. Riazuddin SA, et al. Among authors: gottsch jd. Invest Ophthalmol Vis Sci. 2011 Apr 27;52(5):2825-9. doi: 10.1167/iovs.10-6497. Print 2011 Apr. Invest Ophthalmol Vis Sci. 2011. PMID: 21245398 Free PMC article.

7

Prevalence and severity of fuchs corneal dystrophy in Tangier Island.

Eghrari AO, McGlumphy EJ, Iliff BW, Wang J, Emmert D, Riazuddin SA, Katsanis N, Gottsch JD. Eghrari AO, et al. Among authors: gottsch jd. Am J Ophthalmol. 2012 Jun;153(6):1067-72. doi: 10.1016/j.ajo.2011.11.033. Epub 2012 Feb 8. Am J Ophthalmol. 2012. PMID: 22321803 Free PMC article.

8

The genetics of Fuchs' corneal dystrophy.

Iliff BW, Riazuddin SA, Gottsch JD. Iliff BW, et al. Among authors: gottsch jd. Expert Rev Ophthalmol. 2012 Aug;7(4):363-375. doi: 10.1586/eop.12.39. Expert Rev Ophthalmol. 2012. PMID: 23585771 Free PMC article.

9

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.

Riazuddin SA, Vasanth S, Katsanis N, Gottsch JD. Riazuddin SA, et al. Among authors: gottsch jd. Am J Hum Genet. 2013 Oct 3;93(4):758-64. doi: 10.1016/j.ajhg.2013.08.010. Am J Hum Genet. 2013. PMID: 24094747 Free PMC article.

10

Fuchs Corneal Dystrophy.

Eghrari AO, Riazuddin SA, Gottsch JD. Eghrari AO, et al. Among authors: gottsch jd. Prog Mol Biol Transl Sci. 2015;134:79-97. doi: 10.1016/bs.pmbts.2015.04.005. Epub 2015 Jul 15. Prog Mol Biol Transl Sci. 2015. PMID: 26310151 Review.

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