Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 751

1.

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

Stix B, Leber M, Bingemer P, Gross C, Rüschoff J, Fändrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A, Röcken C.

Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1133-9.

PMID:
15790870
[PubMed - indexed for MEDLINE]
Free Article
2.

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.

Ophthalmology. 2009 Jan;116(1):46-51. doi: 10.1016/j.ophtha.2008.08.050. Epub 2008 Nov 18.

PMID:
19019446
[PubMed - indexed for MEDLINE]
3.

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.

Klintworth GK, Bao W, Afshari NA.

Invest Ophthalmol Vis Sci. 2004 May;45(5):1382-8.

PMID:
15111592
[PubMed - indexed for MEDLINE]
Free Article
4.

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.

Ophthalmology. 1999 May;106(5):964-70.

PMID:
10328397
[PubMed - indexed for MEDLINE]
5.

Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family.

Huerva V, Velasco A, Sánchez MC, Mateo AJ, Matías-Guiu X.

Eur J Ophthalmol. 2007 May-Jun;17(3):424-9.

PMID:
17534828
[PubMed - indexed for MEDLINE]
6.

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A, Liu Z.

Jpn J Ophthalmol. 2005 Mar-Apr;49(2):84-8.

PMID:
15838722
[PubMed - indexed for MEDLINE]
7.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P, Vogel M, Diaz JM, Romero MP, Herrera L.

Mol Vis. 2008 May 7;14:829-35.

PMID:
18470323
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.

Hirano K, Hotta Y, Nakamura M, Fujiki K, Kanai A, Yamamoto N.

Cornea. 2001 Jul;20(5):525-9.

PMID:
11413411
[PubMed - indexed for MEDLINE]
9.

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

Takács L, Losonczy G, Matesz K, Balogh I, Sohajda Z, Tóth K, Fazakas F, Vereb G, Berta A.

Mol Vis. 2007 Oct 18;13:1976-83.

PMID:
17982422
[PubMed - indexed for MEDLINE]
Free Article
10.

First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria.

Capoluongo E, De Benedetti G, Concolino P, Sepe M, Ambu R, Faa G, Sciandra F, Santonocito C, D'Alberto A, Caselli M, Brancaccio A.

Eur J Ophthalmol. 2005 Nov-Dec;15(6):804-8.

PMID:
16329070
[PubMed - indexed for MEDLINE]
11.

[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].

Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI.

Klin Monbl Augenheilkd. 2005 Dec;222(12):1017-23. German.

PMID:
16380889
[PubMed - indexed for MEDLINE]
12.

The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.

Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC.

Mol Vis. 2007 Sep 17;13:1695-700.

PMID:
17893671
[PubMed - indexed for MEDLINE]
Free Article
13.

Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene.

Eifrig DE Jr, Afshari NA, Buchanan HW 4th, Bowling BL, Klintworth GK.

Ophthalmology. 2004 Jun;111(6):1108-14.

PMID:
15177960
[PubMed - indexed for MEDLINE]
14.

A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP.

Am J Ophthalmol. 2003 Nov;136(5):872-8.

PMID:
14597039
[PubMed - indexed for MEDLINE]
15.

Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.

El Kochairi I, Letovanec I, Uffer S, Munier FL, Chaubert P, Schorderet DF.

Mol Vis. 2006 May 10;12:461-6.

PMID:
16710170
[PubMed - indexed for MEDLINE]
Free Article
16.

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, Yenchitsomanus PT, Trinavarat A, Srisawat C; Study Group.

Jpn J Ophthalmol. 2006 Sep-Oct;50(5):403-8.

PMID:
17013691
[PubMed - indexed for MEDLINE]
17.

Spheroidal degeneration in H626R TGFBI variant lattice dystrophy: a multimodality analysis.

Lai K, Reidy J, Bert B, Milman T.

Cornea. 2014 Jul;33(7):726-32. doi: 10.1097/ICO.0000000000000140.

PMID:
24831201
[PubMed - indexed for MEDLINE]
18.

No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition.

Aldave AJ, Rayner SA, King JA, Salem AK, Prechanond A, Hashida S, Affeldt JC, Meallet MA, Glasgow BJ, Small KW, Yellore VS.

Cornea. 2006 May;25(4):413-5.

PMID:
16670477
[PubMed - indexed for MEDLINE]
19.

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.

Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, Shimomura Y, Nishida K, Kinoshita S, Tano Y.

Am J Ophthalmol. 1998 Aug;126(2):169-76.

PMID:
9727509
[PubMed - indexed for MEDLINE]
20.

Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.

Konishi M, Yamada M, Nakamura Y, Mashima Y.

Cornea. 1999 Jul;18(4):424-9.

PMID:
10422854
[PubMed - indexed for MEDLINE]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk