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Scholar Results 1 - 10 of about 101 related to Chau: H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy.... (0.09 sec) 

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy …

- nih.gov
HM Chau, NT Ha, LX Cung, TK Thanh, K Fujiki … - British Journal of Ophthalmology, 2003 - bjo.bmj.com
Results: Two clinically distinguishable forms of LCD were revealed: one was
typical of LCDI; the other was characterised by the late onset, thick lattice
lines, and asymmetry between two eyes. Sequencing of the TGFBI gene ...
Cited by 30 - Related articles - BL Direct - All 9 versions

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes …


AJ Aldave, JG Gutmark, VS Yellore, JA … - American journal of ophthalmology, 2004 - Elsevier
Bilateral, symmetric, radially arranged, branching refractile lines within and
surrounding an area of central anterior stromal haze were noted in the proband.
Multiple polymorphic, refractile deposits were noted in the mid and ...
Cited by 23 - Related articles - All 15 versions

A new mutation(Leu 569 Arg) within exon 13 of the TGFBI(BIGH 3) gene causes lattice …


JF Warren, RL Abbott, MK Yoon, JB Crawford … - American journal of ophthalmology, 2003 - cat.inist.fr
○ PURPOSE: To describe an American family with lattice corneal dystrophy type
I, which associates with a novel mutation, Leu 569 Arg, of the TGFBI(BIGH 3)
gene. ○ DESIGN: Experimental study. ○ METHODS: Genomic DNA was ...
Cited by 24 - Related articles - All 10 versions

Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies …


NA Afshari, JE Mullally, MA Afshari, RF … - Archives of Ophthalmology, 2001 - archopht.highwire.org
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Cited by 71 - Related articles - BL Direct - All 4 versions

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an …

- iovs.org
GK Klintworth, W Bao, NA Afshari - Investigative ophthalmology & visual science, 2004 - ARVO
RESULTS. Slit lamp biomicroscopy disclosed the clinical features of LCD in both
eyes of affected individuals. In vivo confocal microscopy confirmed the presence
of deposits as bright lesions within the corneal stroma. OCT revealed ...
Cited by 28 - Related articles - BL Direct - All 4 versions

Clinical outcome of eight BIGH3-linked corneal dystrophies


P Ellies, G Renard, S Valleix, P Yves Boelle, … - Ophthalmology, 2002 - Elsevier
Chart review of 73 patients (110 eyes) with recently confirmed BIGH3 mutations
who underwent a penetrating keratoplasty (PK) from 1978 through 1999. Diagnoses
included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD ...
Cited by 29 - Related articles - BL Direct - All 9 versions

Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene

- nih.gov [PDF]  - Free from Publisher
K Hirano, Y Hotta, K Fujiki, A Kanai - British Journal of Ophthalmology, 2000 - bjo.bmj.com
RESULTS All the affected members were clinically diagnosed as having LCDI, and
the pedigree indicated an autosomal dominant inheritance. A heterozygous single
base pair transition (CTG to CCG, leucine to proline) was detected in codon ...
Cited by 20 - Related articles - BL Direct - All 7 versions

A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers …


C Rozzo, M Fossarello, G Galleri, G Sole, A … - Human mutation, 1998 - ncbi.nlm.nih.gov
Reis-Bücklers' corneal dystrophy (RBCD) is a relatively rare autosomal dominant
disease originating in the Bowman's membrane, which causes severe visual
impairment. Recently RBCD, together with lattice corneal dystrophy type I ...
Cited by 34 - Related articles

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients

- iovs.org
SVV Chakravarthi, C Kannabiran, MS Sridhar … - Investigative ophthalmology & visual science, 2005 - ARVO
RESULTS. Mutations were identified in 14 of 18 patients with LCD and in all 19
patients with GCD. In LCD, three novel heterozygous mutations found were
glycine-594-valine (Gly594Val) in 2 of 18 patients, valine-539-aspartic ...
Cited by 25 - Related articles - All 3 versions

Histologic phenotype–genotype correlation of corneal dystrophies associated with eight …


P Dighiero, F Niel, P Ellies, FD'Hermies, M … - Ophthalmology, 2001 - Elsevier
Cited by 34 - Related articles - BL Direct - All 8 versions


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