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Items: 1 to 20 of 97

1.

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA, Forster RK, Hejtmancik JF, Schorderet DF.

Am J Hum Genet. 2005 Jul;77(1):54-63. Epub 2005 May 18.

2.

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.

Hum Genet. 2003 May;112(5-6):593-9. Epub 2003 Feb 27.

PMID:
12607114
3.

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Kawasaki S, Yamasaki K, Nakagawa H, Shinomiya K, Nakatsukasa M, Nakai Y, Kinoshita S.

Mol Vis. 2012;18:2954-60. Epub 2012 Dec 12.

4.

A novel PIKFYVE mutation in fleck corneal dystrophy.

Kotoulas A, Kokotas H, Kopsidas K, Droutsas K, Grigoriadou M, Bajrami H, Schorderet DF, Petersen MB.

Mol Vis. 2011;17:2776-81. Epub 2011 Oct 25.

5.

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Vincent AL, Markie DM, De Karolyi B, Wheeldon CE, Patel DV, Grupcheva CN, McGhee CN.

Mol Vis. 2009 Aug 26;15:1700-8.

6.

Fleck (Mouchetée) dystrophy of the cornea.

Patten JT, Hyndiuk RA, Donaldson DD, Herman SJ, Ostler HB.

Ann Ophthalmol. 1976 Jan;8(1):25-32.

PMID:
1082286
7.

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.

Boisset G, Polok BK, Schorderet DF.

Gene Expr Patterns. 2008 Jul;8(6):404-10. doi: 10.1016/j.gep.2008.04.007. Epub 2008 Apr 30.

PMID:
18558518
8.

A clinical and histopathological study of François-Neetens speckled corneal dystrophy.

Nicholson DH, Green WR, Cross HE, Kenyon KR, Massof D.

Am J Ophthalmol. 1977 Apr;83(4):554-60.

PMID:
141212
9.

[Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family].

Meins M, Kohlhaas M, Richard G, Gal A.

Klin Monbl Augenheilkd. 1998 Mar;212(3):154-8. German.

PMID:
9592740
10.

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ.

Mol Vis. 2015 Sep 17;21:1093-100. eCollection 2015.

11.

Three autosomal dominant corneal dystrophies map to chromosome 5q.

Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, et al.

Nat Genet. 1994 Jan;6(1):47-51.

PMID:
8136834
12.

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.

Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB.

Mol Vis. 2010 Jul 29;16:1429-38.

13.

R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.

Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Escribano J.

Mol Vis. 2007 Aug 10;13:1390-6.

PMID:
17768377
14.

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Hou YC, Wang IJ, Hsiao CH, Chen WL, Hu FR.

Mol Vis. 2012;18:362-71. Epub 2012 Feb 7.

15.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC.

Hum Mol Genet. 2001 Oct 1;10(21):2415-23.

PMID:
11689488
16.

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL.

Ophthalmology. 2016 Apr;123(4):709-22. doi: 10.1016/j.ophtha.2015.12.008. Epub 2016 Jan 16.

17.

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE.

Invest Ophthalmol Vis Sci. 2013 May 3;54(5):3215-23. doi: 10.1167/iovs.13-11781.

PMID:
23599324
18.

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6.

PMID:
15671264
19.

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5007-12.

PMID:
17962451
20.

TGFBI gene mutations in a Korean population with corneal dystrophy.

Cho KJ, Mok JW, Na KS, Rho CR, Byun YS, Hwang HS, Hwang KY, Joo CK.

Mol Vis. 2012;18:2012-21. Epub 2012 Jul 20.

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