PubMed

Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.

Yamada N, Chikama TI, Morishige N, Yanai R, Nishida T, Inui M, Seki K.

Br J Ophthalmol. 2005 Jun;89(6):771-3. No abstract available. PMID: 15923518 [PubMed - indexed for MEDLINE]Related articlesFree article

Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene.

Funayama T, Mashima Y, Kawashima M, Yamada M.

Jpn J Ophthalmol. 2006 Jan-Feb;50(1):62-4. No abstract available. PMID: 16453189 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.

Aldave AJ, Yellore VS, Sonmez B, Bourla N, Salem AK, Khan MA, Rayner SA, Glasgow BJ.

Arch Ophthalmol. 2008 Mar;126(3):371-7.PMID: 18332318 [PubMed - indexed for MEDLINE]Related articlesFree article

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]

Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker HE, Heinritz W, Froster U, Duncker G.

Klin Monbl Augenheilkd. 2006 Oct;223(10):829-36. German. PMID: 17063427 [PubMed - indexed for MEDLINE]Related articles

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]Related articlesFree article

Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.

Afshari NA, Bahadur RP, Eifrig DE Jr, Thogersen IB, Enghild JJ, Klintworth GK.

Mol Vis. 2008 Mar 12;14:495-9.PMID: 18385782 [PubMed - indexed for MEDLINE]Related articlesFree article

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS.

Ophthalmology. 2005 Jun;112(6):1017-22.PMID: 15885785 [PubMed - indexed for MEDLINE]Related articles

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.

Tsujikawa K, Tsujikawa M, Watanabe H, Maeda N, Inoue Y, Fujikado T, Tano Y.

J Hum Genet. 2007;52(1):92-7. Epub 2006 Nov 10.PMID: 17096061 [PubMed - indexed for MEDLINE]Related articles

TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.

Pampukha VM, Drozhyna GI, Livshits LA.

Ophthalmologica. 2004 Nov-Dec;218(6):411-4.PMID: 15564760 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articlesFree article

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.

Alavi A, Elahi E, Rahmati-Kamel M, Karimian F, Rezaei-Kanavi M.

Clin Experiment Ophthalmol. 2008 Jan-Feb;36(1):26-30.PMID: 18290950 [PubMed - indexed for MEDLINE]Related articles

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.

Yoshida S, Yoshida A, Nakao S, Emori A, Nakamura T, Fujisawa K, Kumano Y, Ishibashi T.

Am J Ophthalmol. 2004 Mar;137(3):586-8.PMID: 15013897 [PubMed - indexed for MEDLINE]Related articles

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]Related articlesFree article

Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

Aldave AJ, Rayner SA, Kim BT, Prechanond A, Yellore VS.

Mol Vis. 2006 Feb 27;12:142-6.PMID: 16541014 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL.

Mol Vis. 2008 Aug 18;14:1503-12.PMID: 18728790 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.

Tian X, Fujiki K, Zhang Y, Murakami A, Li Q, Kanai A, Wang W, Hao Y, Ma Z.

Am J Ophthalmol. 2007 Sep;144(3):473-5.PMID: 17765440 [PubMed - indexed for MEDLINE]Related articles

[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]

Zenteno JC, Santacruz-Valdés C, Ramírez-Miranda A.

Arch Soc Esp Oftalmol. 2006 Jul;81(7):369-74. Spanish. PMID: 16888689 [PubMed - indexed for MEDLINE]Related articlesFree article

Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

Tanhehco TY, Eifrig DE Jr, Schwab IR, Rapuano CJ, Klintworth GK.

Arch Ophthalmol. 2006 Apr;124(4):589-93. No abstract available. PMID: 16606891 [PubMed - indexed for MEDLINE]Related articles