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Scholar Results 1 - 10 of about 30 citing Chau: H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy.... (0.12 sec) 

TGFBI gene mutations in corneal dystrophies


C Kannabiran, GK Klintworth - Human mutation, 2006 - interscience.wiley.com
The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are
autosomal dominant disorders of the corneal stroma. They are bilateral,
progressive conditions characterized by the formation of opacities arising ...
Cited by 34 - Related articles - BL Direct - All 5 versions

Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?


AJ Aldave, B Sonmez - Archives of Ophthalmology, 2007 - archopht.highwire.org
The identification of the genetic basis of approximately half of the corneal
dystrophies in the past decade has resulted in significant advances in our
understanding of the genetic control of corneal clarity and has provided ...
Cited by 19 - Related articles - BL Direct - All 4 versions

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal …


X Tian, K Fujiki, W Wang, A Murakami, P Xie, … - Japanese journal of ophthalmology, 2005 - Springer
(CD): lattice CD type I (LCDI), granular CD (GCD), Avellino CD (ACD), and
Reis-Bücklers CD (RBCD) in Caucasians. 1 Now many kinds of mutations in the
TGFBI gene have been reported in patients from several ethnic backgrounds. ...
Cited by 16 - Related articles - All 4 versions

[PDF] The IC3D classification of the corneal dystrophies


JS Weiss, HU Møller, W Lisch, S Kinoshita, … - Cornea, 2008 - theworldcorneacongress.com
Jayne S. Weiss, MD,*† HU Møller, MD, PhD,‡ Walter Lisch, MD,§ Shigeru
Kinoshita, MD,¶ Anthony J. Aldave, MD,k Michael W. Belin, MD,** Tero Kivelä,
MD, FEBO,†† Massimo Busin, MD,‡‡ Francis L. Munier, MD,§§ ...
Cited by 9 - Related articles - View as HTML - All 31 versions

Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a …


JC Zenteno, C Santacruz-Valdés, A Ramírez … - Archivos de la Sociedad Española de Oftalmología, 2006 - SciELO Brasil
SciELO - Scientific Electronic Library Online Browse SciELO, SciELO Library
Error Detector An unexpected error occurred in SciELO servers. ...
Cited by 7 - Related articles - Cached - BL Direct - All 4 versions

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


C Blanco-Marchite, F Sánchez-Sánchez, E … - Mol Vis, 2007 - molvis.org
Methods: We recruited 13 subjects from two unrelated families diagnosed with
autosomal dominant lattice type I or granular type I corneal dystrophies.
Corneal phenotypes were assessed by slit lamp examination. Genomic DNA was ...
Cited by 6 - Related articles - Cached - All 3 versions

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused …


SY Yoo, TI Kim, SY Lee, EK Kim, KC Keum, … - British Journal of Ophthalmology, 2007 - bjo.bmj.com
Results: Direct sequencing of exons 4 and 12 of the βigh3 gene in the patients'
genome showed that β-aCDs could be mainly classified into five types:
homozygotic Avellino corneal dystrophy (ACD), heterozygotic ACD, ...
Cited by 6 - Related articles - BL Direct - All 5 versions

A Novel H572R Mutation in the Transforming Growth Factor-β-Induced Gene in a Thai Family …


… P Yenchitsomanus, A Trinavarat, C Srisawat - Japanese journal of ophthalmology, 2006 - Springer
Mutations in the transforming growth factor-β-induced (TGFBI) gene are
responsible for various types of heredi- tary corneal dystrophies. 2 Lattice
corneal dystrophy (LCD) has been reported in different ethnic groups to be ...
Cited by 5 - Related articles - All 3 versions

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal …

- ias.ac.in [PDF] 
P Yu, Y Gu, Y Yang, X Yan, L Chen, Z Ge, M Qi … - Journal of Genetics, 2006 - Springer
Page 1. c Indian Academy of Sciences RESEARCH NOTE A clinical and
molecular-genetic analysis of Chinese patients with lattice corneal ...
Cited by 5 - Related articles - BL Direct - All 5 versions

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in …


P Liskova, GK Klintworth, BL Bowling, M … - Ophthalmic Res, 2008 - content.karger.com
Page 1. Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Short
Communication Ophthalmic Res 2008;40:105–108 DOI: 10.1159/000115325 ...
Cited by 4 - Related articles - BL Direct - All 4 versions


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