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Scholar Results 1 - 10 of about 101 related to Hilton: De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. (0.14 sec) 

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy


EN Hilton, GCM Black, FDC Manson, DF … - British Medical Journal, 2007 - bjo.bmj.com
Allelic mutations in the BIGH3/TGFB1 gene are responsible for a clinically
heterogeneous group of corneal dystrophies inherited in an autosomal-dominant
manner. At least seven corneal dystrophies are caused by such mutations and ...
Cited by 1 - Related articles - All 4 versions

Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused …


TY Tanhehco, DE Eifrig Jr, IR Schwab, CJ … - Archives of Ophthalmology, 2006 - Am Med Assoc
Reis-Bücklers corneal dystrophy (RBCD) is an inherited corneal disorder that
was first described by Reis 1 in 1917 and later by Bücklers 2 in 1949. Affected
individuals have an onset early in life and have frequently recurring, ...
Cited by 5 - Related articles - BL Direct - All 4 versions

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated …


XC Zhao, H Nakamura, S Subramanyam, LE … - Ophthalmology, 2007 - Elsevier
Cited by 4 - Related articles - All 14 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

Differential diagnosis of corneal dystrophies of the Groenouw I, Reis-Bückler and Thiel- …


EG Weidle - Fortschritte der Ophthalmologie: Zeitschrift der …, 1989 - ncbi.nlm.nih.gov
In the literature there are different definitions of Reis-Bücklers' corneal
dystrophy. The corneal disease corresponding to the original description of Reis
and Bücklers is interpreted by some authors as an atypical form of ...
Cited by 4 - Related articles

Phototherapeutic keratectomy for BIGH3-linked corneal dystrophy recurring after penetrating …


P Ellies, RA Bejjani, JL Bourges, PY Boelle, … - Ophthalmology, 2003 - Elsevier
Forty-two excimer laser PTK procedures were performed in 42 eyes of 29 patients
with BIGH3-linked corneal dystrophies. Genetic status of all patients was
determined and allowed us to assess an unambiguous diagnosis. Preoperative ...
Cited by 6 - Related articles - All 12 versions

Electron microscopic study of recurrent Reis-Bücklers' corneal dystrophy.


T Yamaguchi, FM Polack, J Valenti - American journal of ophthalmology, 1980 - ncbi.nlm.nih.gov
We studied the cornea of a 51-year-old woman with recurrent Reis-Bücklers'
dystrophy with the transmission electron microscope. The patient had had a
superficial keratectomy nine years earlier. The epithelium removed in a ...
Cited by 7 - Related articles

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

Optimized expression and refolding of human keratoepithelin in BL21 (DE3)


C Yuan, JM Reuland, L Lee, AJW Huang - Protein Expression and Purification, 2004 - Elsevier
Keratoepithelin (KE) is an extracellular protein participating in cell adhesion
and differentiation. Mutations of the KE gene (on 5q31 in humans) cause
deposition of abnormal proteins (amyloid and non-amyloid) in corneal stroma ...
Cited by 8 - Related articles - All 3 versions

Keratoepithelin in secondary corneal amyloidosis


D Suesskind, C Auw‐Haedrich, DF Schorderet … - Graefe's Archive for Clinical and Experimental …, 2006 - Springer
Abstract Background: Amyloid is found in several corneal dystrophies, including
distinct lattice corneal dys- trophies (LCD) and Avellino corneal dystrophy.
Recently, point mutations in the transforming growth factor- beta-induced ...
Cited by 8 - Related articles - BL Direct - All 3 versions


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