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Scholar Results 1 - 10 of 12 citing Yoon: A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation.... (0.12 sec) 

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 mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese …


YT Chen, SH Tseng, SC Chao - Cornea, 2005 - journals.lww.com
From the *Department of Ophthalmology, College of Medicine, National Cheng Kung
University, Tainan, Taiwan; †Institute of Clinical Medicine, College of
Medicine, National Cheng Kung University, Tainan, Taiwan; and ‡Department ...
Cited by 13 - Related articles - BL Direct - 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

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the …

- irovision.ch [PDF] 
O Nichini, VA Manzi, FL Munier, DF … - Ophthalmic Genetics, 2005 - informahealthcare.com
Purpose: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder
affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3
or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 ...
Cited by 7 - Related articles - BL Direct - All 11 versions

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's …


LS Sullivan, EB Baylin, R Font, SP Daiger, … - Mol Vis, 2007 - molvis.org
Methods: A family with clinically identified Meesmann's corneal dystrophy was
recruited and studied. Electron microscopy was performed on scrapings of corneal
epithelial cells from the proband. Mutations in the KRT12 gene were sought ...
Cited by 1 - Related articles - Cached - All 7 versions

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an …


JP Szaflik, M Ołdak, RB Maksym, A Kamińska, A … - Molecular Vision, 2008 - pubmedcentral.nih.gov
1Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland;
2Department of Histology and Embryology, Medical University of Warsaw, Warsaw,
Poland; 3Institute of Physiology and Pathology of Hearing, Warsaw, Poland; ...
Cited by 1 - Related articles - All 7 versions

Meesmann corneal dystrophy associated with epithelial basement membrane and posterior …


FA Cremona, FR Ghosheh, PR Laibson, CJ … - Cornea, 2008 - journals.lww.com
Skip Navigation Links Home > April 2008 - Volume 27 - Issue 3 > Meesmann Corneal
Dystrophy Associated With Epithelial Baseme... ... From the Cornea Service,
Wills Eye Institute, Philadelphia, PA. ... Received for publication June ...
Cited by 1 - Related articles - BL Direct - All 2 versions

Identifying the Role of Specific Motifs in the Lens Fiber Cell Specific Intermediate Filament …

- iovs.org
JT Pittenger, JF Hess, PG FitzGerald - Investigative Ophthalmology & Visual Science, 2007 - ARVO
RESULTS. Substitution of the phakosin helix initiation motif (HIM) into K18 does
not alter assembly with K8, establishing that the radical divergence in phakosin
HIM is not by itself the mechanism by which IF assembly is redirected to BF ...
Related articles - BL Direct - All 2 versions

Management of Symptomatic Meesmann Dystrophy


I Jalbert, F Stapleton - Optometry & Vision Science, 2009 - pdfs.journals.lww.com
Abstract Meesmann dystrophy is a non-progressive autosomal dominant corneal
epithelial dystrophy characterized by intraepi- thelial cysts, which is likely
to be caused by an intraepithelial metabolic abnormality. Cases may be ...
Related articles - All 5 versions

A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy


T Seto, K Fujiki, H Kishishita, T Fujimaki, A … - Japanese Journal of Ophthalmology, 2008 - Springer
Meesmann corneal dystrophy (MECD; OMIM 122100) is a bilaterally symmetrical,
autosomal dominant disorder of the corneal epithelium characterized by the
appearance of myriad fine round epithelial cysts. The patients are usually ...
Related articles - All 3 versions


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