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Results: 1 to 20 of 64

1.

Relationship of Fuchs endothelial corneal dystrophy severity to central corneal thickness.

Kopplin LJ, Przepyszny K, Schmotzer B, Rudo K, Babineau DC, Patel SV, Verdier DD, Jurkunas U, Iyengar SK, Lass JH; Fuchs' Endothelial Corneal Dystrophy Genetics Multi-Center Study Group.

Arch Ophthalmol. 2012 Apr;130(4):433-9. doi: 10.1001/archopthalmol.2011.1626.

PMID:
22491913
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

Am J Hum Genet. 2012 Mar 9;90(3):533-9. doi: 10.1016/j.ajhg.2012.01.013. Epub 2012 Feb 16.

PMID:
22341973
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.

Kuot A, Hewitt AW, Griggs K, Klebe S, Mills R, Jhanji V, Craig JE, Sharma S, Burdon KP.

Eur J Hum Genet. 2012 Jun;20(6):632-8. doi: 10.1038/ejhg.2011.248. Epub 2012 Jan 11.

PMID:
22234156
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Transcription factor TCF4 maintains the properties of human corneal epithelial stem cells.

Lu R, Qu Y, Ge J, Zhang L, Su Z, Pflugfelder SC, Li DQ.

Stem Cells. 2012 Apr;30(4):753-61. doi: 10.1002/stem.1032.

PMID:
22232078
[PubMed - indexed for MEDLINE]
Free Article
5.

Role of the TCF4 gene intronic variant in normal variation of corneal endothelium.

Mackey DA, Warrington NM, Hewitt AW, Oates SK, Yazar S, Soloshenko A, Crawford GJ, Mountain JA, Pennell CE.

Cornea. 2012 Feb;31(2):162-6. doi: 10.1097/ICO.0b013e318226155f.

PMID:
22146553
[PubMed - indexed for MEDLINE]
6.

A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.

Bohnsack BL, Kasprick DS, Kish PE, Goldman D, Kahana A.

Invest Ophthalmol Vis Sci. 2012 Jan 3;53(1):7-22. doi: 10.1167/iovs.11-8494.

PMID:
22125274
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

β-catenin/TCF4 complex induces the epithelial-to-mesenchymal transition (EMT)-activator ZEB1 to regulate tumor invasiveness.

Sánchez-Tilló E, de Barrios O, Siles L, Cuatrecasas M, Castells A, Postigo A.

Proc Natl Acad Sci U S A. 2011 Nov 29;108(48):19204-9. doi: 10.1073/pnas.1108977108. Epub 2011 Nov 11.

PMID:
22080605
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.

Louttit MD, Kopplin LJ, Igo RP Jr, Fondran JR, Tagliaferri A, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser GO, Lass JH, Iyengar SK; FECD Genetics Multi-Center Study Group.

Cornea. 2012 Jan;31(1):26-35. doi: 10.1097/ICO.0b013e31821c9b8f.

PMID:
22045388
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Jun AS, Meng H, Ramanan N, Matthaei M, Chakravarti S, Bonshek R, Black GC, Grebe R, Kimos M.

Hum Mol Genet. 2012 Jan 15;21(2):384-93. doi: 10.1093/hmg/ddr473. Epub 2011 Oct 14.

PMID:
22002996
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genetic risk prediction in complex disease.

Jostins L, Barrett JC.

Hum Mol Genet. 2011 Oct 15;20(R2):R182-8. doi: 10.1093/hmg/ddr378. Epub 2011 Aug 25. Review.

PMID:
21873261
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Prevalence of corneal dystrophies in the United States: estimates from claims data.

Musch DC, Niziol LM, Stein JD, Kamyar RM, Sugar A.

Invest Ophthalmol Vis Sci. 2011 Sep 1;52(9):6959-63. doi: 10.1167/iovs.11-7771.

PMID:
21791583
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EM, Spencer HL, Daly SB, Manson FD, Zeef LA, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GC.

Am J Hum Genet. 2011 Jun 10;88(6):767-77. doi: 10.1016/j.ajhg.2011.05.007. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):346.

PMID:
21664999
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese.

Thalamuthu A, Khor CC, Venkataraman D, Koh LW, Tan DT, Aung T, Mehta JS, Vithana EN.

Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5573-8. doi: 10.1167/iovs.11-7568.

PMID:
21659310
[PubMed - indexed for MEDLINE]
Free Article
14.

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Li YJ, Minear MA, Rimmler J, Zhao B, Balajonda E, Hauser MA, Allingham RR, Eghrari AO, Riazuddin SA, Katsanis N, Gottsch JD, Gregory SG, Klintworth GK, Afshari NA.

PLoS One. 2011 Apr 20;6(4):e18044. doi: 10.1371/journal.pone.0018044.

PMID:
21533127
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

Invest Ophthalmol Vis Sci. 2011 Apr 27;52(5):2825-9. doi: 10.1167/iovs.10-6497. Print 2011 Apr.

PMID:
21245398
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

Desronvil T, Logan-Wyatt D, Abdrabou W, Triana M, Jones R, Taheri S, Del Bono E, Pasquale LR, Olivier M, Haines JL, Fan BJ, Wiggs JL.

Mol Vis. 2010 Oct 29;16:2185-91.

PMID:
21139683
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Collagen-related genes influence the glaucoma risk factor, central corneal thickness.

Vithana EN, Aung T, Khor CC, Cornes BK, Tay WT, Sim X, Lavanya R, Wu R, Zheng Y, Hibberd ML, Chia KS, Seielstad M, Goh LK, Saw SM, Tai ES, Wong TY.

Hum Mol Genet. 2011 Feb 15;20(4):649-58. doi: 10.1093/hmg/ddq511. Epub 2010 Nov 23.

PMID:
21098505
[PubMed - indexed for MEDLINE]
Free Article
18.

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.

Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ.

Ophthalmic Genet. 2010 Dec;31(4):230-4. doi: 10.3109/13816810.2010.518577.

PMID:
21067486
[PubMed - indexed for MEDLINE]
19.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

Hum Mutat. 2010 Nov;31(11):1261-8. doi: 10.1002/humu.21356. Epub 2010 Oct 14.

PMID:
20848555
[PubMed - indexed for MEDLINE]
Free PMC Article

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