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Cornea, ISSN 0277-3740, 2015, Volume 34, Issue 2, pp. 117 - 159
PURPOSE:To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.... 
Fleck corneal dystrophy | Cornea | Epithelial and subepithelial dystrophies | Descemetmembrane | Posterior amorphous corneal dystrophy | Confocal microscopy | Cornea pathology | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | Stromal dystrophies | Hereditary disease | Epithelial basement membranedystrophy | Pre-Descemet corneal dystrophy | Histopathology | Keratoconus | Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy | Bowman membrane | Subepithelialmucinous corneal dystrophy | Endothelial dystrophies | Genetics | Schnyder corneal dystrophy | Gelatinousdrop-like corneal dystrophy | Fuchsendothelial corneal dystrophy | Epithelial-stromal TGFBI dystrophies | Lisch epithelial corneal dystrophy | Stroma | Histology | Meesmann dystrophy | Epithelium | Endothelium | Genetic disease | Epithelial recurrent erosion dystrophies | Posteror polymorphous corneal dystrophy | Centralcloudy dystrophy of François | Granular corneal dystrophy type 1 | Granular corneal dystrophy type 2 | TGFBI | Reis-Bücklers corneal dystrophy | Congenital stromal corneal dystrophy | Cornea dystrophy | cornea | endothelial dystrophies | histology | epithelial basement membrane dystrophy | genetic disease | epithelial and subepithelial dystrophies | central cloudy dystrophy of Francois | macular corneal dystrophy | subepithelial mucinous corneal dystrophy | cornea pathology | stroma | FRANCOIS | congenital corneal endothelial dystrophy and X-linked endothelial dystrophy | posteror polymorphous corneal dystrophy | DISEASE | epithelium | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy | pre-Descemet corneal dystrophy | histopathology | INDIVIDUAL PHENOTYPIC VARIANCES | FAMILY | epithelial recurrent erosion dystrophies | granular corneal dystrophy type 1 | granular corneal dystrophy type 2 | genetics | cornea dystrophy | UBIAD1 GENE | MUTATIONS | Descemet membrane | endothelium | hereditary disease | epithelial-stromal TGFBI dystrophies | keratoconus | posterior amorphous corneal dystrophy | congenital stromal corneal dystrophy | stromal dystrophies | fleck corneal dystrophy | confocal microscopy | gelatinous drop-like corneal dystrophy | EDEMA | OPHTHALMOLOGY | LINKAGE | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | International Classification of Diseases | Corneal Dystrophies, Hereditary - classification | Corneal Dystrophies, Hereditary - pathology | Humans
Journal Article
CORNEA, ISSN 0277-3740, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | HELIX TERMINATION MOTIF | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Journal of cellular and molecular medicine, ISSN 1582-1838, 2018, Volume 22, Issue 4, pp. 2442 - 2448
Journal Article
Neuromuscular disorders : NMD, ISSN 0960-8966, 2010, Volume 20, Issue 8, pp. 479 - 492
Summary Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as... 
Neurology | Treatment | Arrhythmia | Cardiomyopathy | Sudden death | Muscular dystrophy | CONDUCTION-SYSTEM | PROXIMAL MYOTONIC MYOPATHY | CLINICAL SPECTRUM | LINKED DILATED CARDIOMYOPATHY | NEUROSCIENCES | NUCLEAR-MEMBRANE | CLINICAL NEUROLOGY | CAUSE AUTOSOMAL-DOMINANT | LEFT-VENTRICULAR DYSFUNCTION | SUDDEN CARDIAC DEATH | LAMIN A/C GENE | SARCOGLYCAN GENE | Cardiomyopathy, Dilated - pathology | Muscular Dystrophies - therapy | Myofibrils - pathology | Humans | Muscular Dystrophy, Facioscapulohumeral - genetics | Muscular Dystrophies - genetics | Myotonic Dystrophy - pathology | Muscular Dystrophies, Limb-Girdle - genetics | Myotonic Dystrophy - genetics | Genetic Diseases, X-Linked - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Cardiomyopathy, Dilated - genetics | Muscular Dystrophy, Emery-Dreifuss - genetics | Muscular Dystrophies - congenital | Muscular Dystrophy, Emery-Dreifuss - pathology | Muscular Dystrophy, Duchenne - pathology | Myocardium - pathology | Muscular Dystrophies - complications | Muscular Dystrophies - pathology | Muscular Dystrophy, Duchenne - complications | Heart Diseases - etiology | Genetic Diseases, X-Linked - pathology | Muscular Dystrophy, Facioscapulohumeral - pathology | Heterozygote | Muscular Dystrophy, Duchenne - genetics | Heart Diseases - pathology | Heart failure | Cardiology | Genetic aspects
Journal Article
Circulation (New York, N.Y.), ISSN 1524-4539, 2017, Volume 136, Issue 13, pp. e200 - e231
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made... 
Neuromuscular disease | Pediatrics | Cardiomyopathy | Muscular dystrophy | AHA Scientific Statements | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOVASCULAR MAGNETIC-RESONANCE | MECHANICAL CIRCULATORY SUPPORT | neuromuscular disease | CONVERTING ENZYME-INHIBITORS | LUNG TRANSPLANTATION GUIDELINES | LEFT-VENTRICULAR NONCOMPACTION | muscular dystrophy | pediatrics | CHEYNE-STOKES RESPIRATION | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | MYOCARDIAL DELAYED ENHANCEMENT | cardiomyopathy | CARDIOSELECTIVE BETA-BLOCKERS | Myotonic Dystrophy - metabolism | Barth Syndrome - metabolism | Friedreich Ataxia - pathology | Myotonic Dystrophy - diagnosis | United States | Humans | Myopathies, Structural, Congenital - genetics | Neuromuscular Diseases - pathology | Barth Syndrome - pathology | Myotonic Dystrophy - pathology | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Cardiomyopathies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Friedreich Ataxia - metabolism | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Diseases - metabolism | Risk Factors | Friedreich Ataxia - diagnosis | Muscular Dystrophy, Emery-Dreifuss - pathology | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Diseases - pathology | Barth Syndrome - diagnosis | American Heart Association | Muscular Diseases - diagnosis | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophies, Limb-Girdle - metabolism | Barth Syndrome - genetics | Neuromuscular Diseases - complications | Myopathies, Structural, Congenital - pathology | Cardiomyopathies - complications | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - metabolism | Myopathies, Structural, Congenital - metabolism | Muscular Dystrophy, Duchenne - diagnosis
Journal Article
Cornea, ISSN 0277-3740, 2008, Volume 27, Issue Suppl 2, pp. S1 - S42
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2013, Volume 84, Issue 2, pp. 109 - 119
The aim of this review was to provide an evidenced‐based review of the genetic basis of the corneal endothelial dystrophies. A review of the English language... 
corneal dystrophy, Fuchs endothelial, 2 | corneal dystrophy, Fuchs endothelial, early onset | corneal dystrophy, Fuchs endothelial, 1 | corneal endothelial dystrophy 1 | corneal endothelial dystrophy 2 | corneal dystrophy, Fuchs endothelial, late onset | corneal dystrophy, posterior polymorphous, 2 | corneal dystrophy, posterior polymorphous, 3 | corneal dystrophy, posterior polymorphous, 1 | Corneal dystrophy, Fuchs endothelial, early onset | Corneal dystrophy, posterior polymorphous, 1 | Corneal dystrophy, posterior polymorphous, 3 | Corneal dystrophy, posterior polymorphous, 2 | Corneal dystrophy, Fuchs endothelial, 1 | Corneal dystrophy, Fuchs endothelial, 2 | Corneal dystrophy, Fuchs endothelial, late onset | Corneal endothelial dystrophy 2 | Corneal endothelial dystrophy 1 | SLC4A11 GENE | posterior polymorphous | early onset | PENETRATING KERATOPLASTY | CANDIDATE GENES | corneal dystrophy | LOCUS | MISSENSE MUTATIONS | COL8A2 GENE | Fuchs endothelial | VIII COLLAGEN | POSTERIOR POLYMORPHOUS DYSTROPHY | GENETICS & HEREDITY | late onset | LINKAGE | SAUDI-ARABIA | Corneal Dystrophies, Hereditary - genetics | Corneal Dystrophies, Hereditary - diagnosis | Evidence-Based Medicine | Humans | Genetic aspects | Genetic disorders | Gene mutations | Endothelium | Corneal Dystrophy, Posterior Polymorphous, 3 | Corneal Dystrophy, Posterior Polymorphous, 2 | Corneal Dystrophy, Fuchs Endothelial, 2 | Corneal Dystrophy, Fuchs Endothelial, Late-Onset | Corneal Endothelial Dystrophy 1 | Corneal Endothelial Dystrophy 2 | Corneal Dystrophy, Fuchs Endothelial, 1 | Corneal Dystrophy, Posterior Polymorphous,1 | Corneal Dystrophy, Fuchs Endothelial, Early-Onset
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 3906 - 16
Journal Article
2011, Methods in molecular biology, ISBN 9781617379826, Volume 709., xiii, 382
Book
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 16105 - 16105
Journal Article