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Scholar Results 1 - 10 of about 17 citing Irvine: A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. (0.18 sec) 

3. Klintworth GK: The molecular genetics of the corneal dystrophies–current status.


M Vis, AJH Genet, BDO Ges, KM Augenheilkd, … - Frontiers in Bioscience, 2002 - ojrd.com
Klintworth GK: The molecular genetics of the corneal dystrophies – current
status. ... Weiss JS, Moller H, Lisch W, Kinoshita S, Aldave A, Belin MW, Busin
M, Kim EK, Munier F, Seitz W, Sutphin J, Bredrup C, Mannis M, Rapuano C, ...
Cited by 79 - Related articles - Cached - All 4 versions

Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in …

- oxfordjournals.org
S Ikeda, LA Cunningham, D Boggess, CD … - Human Molecular Genetics, 2003 - Oxford Univ Press
Corneal disease is the most common cause of bilateral blindness in the world.
Visual loss in this condition is often due to changes in morphology and function
of the corneal epithelial surface. Corneal disease-1 (corn1) and corn1 2J ...
Cited by 24 - Related articles - BL Direct - All 6 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

Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo …


DV Patel, CN Grupcheva, CNJ McGhee - Cornea, 2005 - journals.lww.com
Skip Navigation Links Home > August 2005 - Volume 24 - Issue 6 > Imaging the
Microstructural Abnormalities of Meesmann Cornea... ... From the Department of
Ophthalmology, Faculty of Medical and Health Sciences, University of ...
Cited by 17 - Related articles - BL Direct - All 7 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

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in …


MK Yoon, JF Warren, DS Holsclaw, DC Gritz, … - British Journal of Ophthalmology, 2004 - bjo.bmj.com
Results: Novel mutations of the K12 gene were identified in both patients. In
one patient a heterozygous point mutation (429A→C = Arg135Ser) was found in
the 1A domain of the K12 gene. This mutation was confirmed by restriction ...
Cited by 12 - Related articles - BL Direct - All 8 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

Ocular surface tissue morphogenesis in normal and disease states revealed by genetically …


WWY Kao - Cornea, 2006 - journals.lww.com
Abstract: Many transgenic and knockout mice exhibit pathogenic processes
resembling human ocular surface diseases. Thus, the clin- ical manifestations of
mouse lines can provide clues for identifying heritable human diseases of ...
Cited by 6 - Related articles - BL Direct - All 3 versions

Corneal dystrophies


GK Klintworth - Orphanet Journal of Rare Diseases, 2009 - ojrd.com
The term corneal dystrophy embraces a heterogenous group of bilateral
genetically determined non-inflammatory corneal diseases that are restricted to
the cornea. The designation is imprecise but remains in vogue because of ...
Cited by 5 - Related articles - Cached - All 8 versions


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