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schnyder corneal dystrophy (21) 21
corneal dystrophy (18) 18
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cholesterol (17) 17
cornea (17) 17
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corneal dystrophies, hereditary - genetics (13) 13
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visual acuity (7) 7
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genetics & heredity (6) 6
mutations (6) 6
corneal dystrophies, hereditary - surgery (5) 5
corneal stroma - pathology (5) 5
crystals (5) 5
lattice corneal dystrophy (5) 5
lipid (5) 5
macular corneal dystrophy (5) 5
schnyder's corneal dystrophy (5) 5
thiel-behnke corneal dystrophy (5) 5
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animals (4) 4
apolipoprotein-e (4) 4
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congenital hereditary endothelial dystrophy 1 (4) 4
congenital stromal corneal dystrophy (4) 4
corneal histopathology (4) 4
corneal opacity (4) 4
crystallization (4) 4
epithelial basement membrane dystrophy (4) 4
epithelial recurrent erosion dystrophy (4) 4
eponym (4) 4
excimer laser (4) 4
eye diseases (4) 4
fleck corneal dystrophy (4) 4
fuchs endothelial corneal dystrophy (4) 4
gelatinous drop-like corneal dystrophy (4) 4
gene mutations (4) 4
genetic corneal disease (4) 4
granular corneal dystrophy 1 (4) 4
granular corneal dystrophy 2 (4) 4
grayson-wilbrandt corneal dystrophy (4) 4
hereditary endothelial dystrophy (4) 4
inherited corneal disease (4) 4
key reference (4) 4
lattice gelsolin type dystrophy (4) 4
lisch epithelial corneal dystrophy (4) 4
localization (4) 4
meesmann corneal dystrophy (4) 4
metabolism (4) 4
posterior amorphous corneal dystrophy (4) 4
posterior polymorphous corneal dystrophy (4) 4
pre-descemet corneal dystrophy (4) 4
prenyltransferase (4) 4
schnyder (4) 4
schnyder's crystalline dystrophy (4) 4
subepithelial mucinous corneal dystrophy (4) 4
ubiad1 gene (4) 4
carbohydrate sulfotransferase gene (3) 3
central cloudy dystrophy (3) 3
child, preschool (3) 3
chromosome 1p34.1-p36 (3) 3
compound heterozygous mutations (3) 3
congenital hereditary endothelial dystrophy 2 (3) 3
cornea - ultrastructure (3) 3
corneal dystrophies, hereditary - metabolism (3) 3
crystalline stromal dystrophy (3) 3
diagnosis, differential (3) 3
dna mutational analysis (3) 3
eye (3) 3
gelsolin-related amyloidosis (3) 3
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Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 11/2018, Volume 256, Issue 11, pp. 2127 - 2134
Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of... 
Pathogenic variant | UBIAD1 | Medicine & Public Health | Confocal microscopy | Ophthalmology | Schnyder corneal dystrophy | Optical coherent tomography | CHOLESTEROL | PHENOTYPE | FAMILY | METABOLISM | GENE | MUTATION | VITAMIN-K | OPHTHALMOLOGY | Medicine, Experimental | Medical research | Family | Lipids | Cornea | Corneal dystrophy | Stroma | Dystrophy | Localization | Age | Genetic screening | Index Medicus
Journal Article
Romanian journal of ophthalmology, ISSN 2457-4325, 04/2018, Volume 62, Issue 2, pp. 175 - 180
to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. We present the preoperative investigations:... 
Cornea - pathology | Corneal Dystrophies, Hereditary - diagnosis | Corneal Dystrophies, Hereditary - complications | Microscopy, Acoustic | Tomography, Optical Coherence | Humans | Index Medicus | Schnyder’s crystalline dystrophy | peripheral corneal degeneration | Case Reports
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 06/2016, Volume 233, Issue 6, pp. 708 - 712
Purpose: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye... 
genetic diseases | corneal dystrophy | genetic mutations | Schnyder corneal dystrophy | Schnyder crystalline corneal dystrophy | lipid | IC3D CLASSIFICATION | PRENYLTRANSFERASE | CORNEAL | DYSTROPHY | OPHTHALMOLOGY | UBIAD1 GENE | MUTATIONS
Journal Article
by Chae, H and Kim, M and Kim, Y and Kim, J and Kwon, A and Choi, H and Park, J and Jang, W and Lee, Y.S and Park, S.H and Kim, M.S
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 678 - 689
Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis... 
posterior polymorphous corneal dystrophy | macular corneal dystrophy | molecular genetic analysis | Thiel–Behnke corneal dystrophy | Fuchs endothelial corneal dystrophy | granular corneal dystrophy | Schnyder corneal dystrophy | lattice corneal dystrophy | Korea | Molecular genetic analysis | Granular corneal dystrophy | Posterior polymorphous corneal dystrophy | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | IC3D CLASSIFICATION | MISSENSE MUTATIONS | COL8A2 GENE | HEREDITARY ENDOTHELIAL DYSTROPHY | GENETICS & HEREDITY | BIGH3 GENE | L527R MUTATION | TGFBI GENE-MUTATIONS | JAPANESE PATIENTS | PROTEIN FUNCTION | LATTICE | Sulfotransferases - genetics | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Corneal Dystrophies, Hereditary - genetics | Family Health | Male | Corneal Dystrophies, Hereditary - ethnology | Zinc Finger E-box-Binding Homeobox 1 - genetics | Transforming Growth Factor beta - genetics | Dimethylallyltranstransferase - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Adult | Female | Genetic Predisposition to Disease - ethnology | Aged | Mutation | Republic of Korea | Collagen Type VIII - genetics | Genetic aspects | Gene mutations | Analysis | Endothelium | Eye diseases | Cornea | Genetic disorders | Index Medicus
Journal Article
Progress in Molecular Biology and Translational Science, ISSN 1877-1173, 2015, Volume 134, pp. 99 - 115
Conference Proceeding
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue C, pp. 407 - 411
Heterozygous mutations in the gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1... 
Mitochondrion | Reactive oxygen species | Schnyder corneal dystrophy | Cholesterol | CoQ10
Journal Article
Optometry and Vision Science, ISSN 1040-5488, 12/2013, Volume 90, Issue 12, pp. e301 - e304
PURPOSETo report a rare corneal dystrophy and its common findings to help aid others in proper and early diagnosis and management. CASE REPORTA 56-year-old... 
cholesterol | corneal dystrophy | crystals | Schnyder corneal dystrophy | arcus | lipid | PHOTOTHERAPEUTIC KERATECTOMY | OPHTHALMOLOGY | UBIAD1 GENE | MUTATIONS | Corneal Transplantation | Vision Disorders - diagnosis | Humans | Middle Aged | Corneal Dystrophies, Hereditary - surgery | Male | Cornea - pathology | Corneal Dystrophies, Hereditary - diagnosis | Index Medicus
Journal Article
OPHTHALMOLOGE, ISSN 0941-293X, 12/2012, Volume 109, Issue 12, pp. 1221 - 1223
A 17-year-old asymptomatic girl presented with discrete bilateral deposits in the superficial corneal stroma. The diagnosis of very early and in this form as... 
Schnyder's corneal dystrophy | Crystals | OPACITY | OPHTHALMOLOGY | Corneal deposits | Early manifestation | Crystalline keratopathy | Diagnosis, Differential | Corneal Dystrophies, Hereditary - pathology | Humans | Adolescent | Corneal Stroma - pathology | Female | Ophthalmoscopy - methods | Index Medicus
Journal Article
Der Ophthalmologe, ISSN 0941-293X, 12/2012, Volume 109, Issue 12, pp. 1221 - 1223
Ein 17-jähriges, asymptomatisches Mädchen stellte sich mit dezenten bilateralen Ablagerungen im oberflächlichen kornealen Stroma vor. Nur aufgrund der... 
Frühe Manifestation | Schnyder-Hornhautdystrophie | Medicine & Public Health | Korneale Ablagerungen | Crystals | Kristalle | Corneal deposits | Kristalline Keratopathien | Ophthalmology | Schnyder’s corneal dystrophy | Early manifestation | Crystalline keratopathy | Schnyder's corneal dystrophy
Journal Article
SCIENCE, ISSN 0036-8075, 06/2012, Volume 336, Issue 6086, pp. 1306 - 1310
Human UBIAD1 localizes to mitochondria and converts vitamin K-1 to vitamin K-2. Vitamin K-2 is best known as a cofactor in blood coagulation, but in bacteria... 
MENAQUINONE-4 | MULTIDISCIPLINARY SCIENCES | SCHNYDER | UBIAD1 GENE | MUTATIONS | DYSFUNCTION | IDENTIFICATION | DROSOPHILA-PINK1 | CRYSTALLINE CORNEAL-DYSTROPHY | PARKINSONS-DISEASE
Journal Article
Der Ophthalmologe, ISSN 0941-293X, 11/2011, Volume 108, Issue 11, pp. 1050 - 1054
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 02/2011, Volume 228, pp. S1 - S39
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 | 2. X-linked endothelial corneal dystrophy | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS 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 | posterior amorphous corneal dystrophy | 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 | congenital hereditary endothelial 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
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 01/2011, Volume 228, pp. S1 - S39
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 | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS 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 | 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 | Fuchs endothelial corneal dystrophy posterior | 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 | polymorphous corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Middle East African Journal of Ophthalmology, ISSN 0974-9233, 01/2011, Volume 18, Issue 1, pp. 61 - 64
Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an... 
Saudi Arabia | Schnyder Corneal Dystrophy | UBIAD1 | Cholesterol | Case studies | Care and treatment | Gene mutations | Patient outcomes | Corneal diseases | Diagnosis | Health aspects | Risk factors | Arabs | Eye diseases | Cornea | Mutation | Ophthalmology | Case Report
Journal Article
Cell biology international reports, ISSN 2041-5346, 2010, Volume 17, Issue 1, pp. e00005 - 26
TERE1/UBIAD1 is involved in SCCD (Schnyder crystalline corneal dystrophy) and multiple human cancers. So far, the molecular mechanism of TERE1/UBIAD1 in... 
Journal Article
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