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Page 1
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. Krafchak CM, et al. Among authors: rozsa fw. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14. Am J Hum Genet. 2005. PMID: 16252232 Free PMC article.
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.
Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager EH, Reed DM, Boehnke M, Moroi SE, Richards JE. Shimizu S, et al. Am J Med Genet A. 2004 Nov 1;130A(4):372-7. doi: 10.1002/ajmg.a.30267. Am J Med Genet A. 2004. PMID: 15384081 Free PMC article.
Genome-wide association study and meta-analysis of intraocular pressure.
Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, Scott K, Rozsa F, Pawar H, Musch DC, Lichter PR, Gaasterland D, Branham K, Gilbert J, Garnai SJ, Chen W, Othman M, Heckenlively J, Swaroop A, Abecasis G, Friedman DS, Zack D, Ashley-Koch A, Ulmer M, Kang JH; NEIGHBOR Consortium; Liu Y, Yaspan BL, Haines J, Allingham RR, Hauser MA, Pasquale L, Wiggs J, Richards JE, Li JZ. Ozel AB, et al. Hum Genet. 2014 Jan;133(1):41-57. doi: 10.1007/s00439-013-1349-5. Epub 2013 Sep 4. Hum Genet. 2014. PMID: 24002674 Free PMC article.
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Shimizu S, et al. Among authors: rozsa fw. Am J Ophthalmol. 2000 Aug;130(2):165-77. doi: 10.1016/s0002-9394(00)00536-5. Am J Ophthalmol. 2000. PMID: 11004290
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. Garnai SJ, et al. Among authors: rozsa fw. PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May. PLoS Genet. 2019. PMID: 31048900 Free PMC article.
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, Johnson D, Abundo GP, Willcockson J, Downs CA, Thompson DA, Musarella MA, Gupta N, Othman MI, Torrez DM, Herman SB, Wong DJ, Higashi M, Boehnke M. Richards JE, et al. Among authors: rozsa fw. Ophthalmology. 1998 Sep;105(9):1698-707. doi: 10.1016/S0161-6420(98)99041-8. Ophthalmology. 1998. PMID: 9754180
22 results