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Items: 1 to 20 of 244

1.

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Nowińska AK, Wylegala E, Janiszewska DA, Dobrowolski D, Aragona P, Roszkowska AM, Puzzolo D.

Mol Vis. 2011;17:2333-42. Epub 2011 Aug 30.

2.

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.

3.

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.

4.

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X.

Mol Vis. 2010 Jun 30;16:1186-93. Review.

5.

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.

6.
7.

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.

Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, Ma X, Yee RW.

Ophthalmology. 2007 Nov;114(11):e39-46.

PMID:
17980739
8.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Niel-Butschi F, Kantelip B, Iwaszkiewicz J, Zoete V, Boimard M, Delpech M, Bourges JL, Renard G, D'Hermies F, Pisella PJ, Hamel C, Delbosc B, Valleix S.

Mol Vis. 2011;17:1192-202. Epub 2011 May 5.

9.

New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.

Qiu WY, Zheng LB, Pan F, Wang BB, Yao YF.

BMC Ophthalmol. 2016 Sep 2;16(1):158. doi: 10.1186/s12886-016-0325-y.

10.

[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
11.

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.

Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C.

Exp Eye Res. 2009 Aug;89(2):172-7. doi: 10.1016/j.exer.2009.03.004. Epub 2009 Mar 18.

PMID:
19303004
12.

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

Dighiero P, Niel F, Ellies P, D'Hermies F, Savoldelli M, Renard G, Delpech M, Valleix S.

Ophthalmology. 2001 Apr;108(4):818-23.

PMID:
11297504
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.

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
15.

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.

Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.

Br J Ophthalmol. 2010 Jul;94(7):836-42. doi: 10.1136/bjo.2009.159632. Epub 2009 Nov 30.

PMID:
19948560
17.

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
18.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Long Y, Gu YS, Han W, Li XY, Yu P, Qi M.

J Zhejiang Univ Sci B. 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154.

19.
20.

TGFBI gene mutations in Brazilian patients with corneal dystrophy.

Solari HP, Ventura MP, Perez AB, Sallum JM, Burnier MN Jr, Belfort R Jr.

Eye (Lond). 2007 May;21(5):587-90. Epub 2006 Jan 27.

PMID:
16440005

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