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molecular sequence data (21) 21
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penetrating keratoplasty (19) 19
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familial amyloidosis (18) 18
phototherapeutic keratectomy (18) 18
retrospective studies (17) 17
gelsolin - genetics (16) 16
mutation, missense (16) 16
corneal stroma - pathology (15) 15
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genetic aspects (15) 15
hereditary amyloidosis (15) 15
visual acuity (15) 15
amyloid (14) 14
corneal dystrophies, hereditary - complications (14) 14
dystrophy (14) 14
genetics & heredity (14) 14
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Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 978 - 989
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2019, Volume 2019, pp. 2824179 - 7
Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the... 
MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | PROTEIN | SPECTRUM | LATTICE | MOTIF
Journal Article
by Ying Hu and Chi Liu
Guoji Yanke Zazhi, ISSN 1672-5123, 01/2019, Volume 19, Issue 1, pp. 128 - 131
AIM: To explore the mutation type of TGFBI gene in a lattice-like corneal dystrophy(LCD)family in northeast China. METHODS: A basic ophthalmologic examination... 
gene mutation | hereditary | lattice-like corneal dystrophy
Journal Article
Cornea, ISSN 0277-3740, 07/2018, Volume 37, Issue 7, pp. 824 - 828
PURPOSE:To describe inadvertent persistent staining of stromal amyloid deposits by trypan blue (TB) after penetrating keratoplasty (PK) and Descemet membrane... 
keratoplasty | SURGERY | LATTICE CORNEAL-DYSTROPHY | CELLS | amyloid | ENDOTHELIUM | OPHTHALMOLOGY | trypan blue | lattice corneal dystrophy | Glycoproteins | Amyloidosis | Research | Index Medicus
Journal Article
Tropical Doctor, ISSN 0049-4755, 7/2018, Volume 48, Issue 3, pp. 199 - 206
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 05/2018, Volume 66, Issue 5, pp. 666 - 672
Journal Article
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION, ISSN 0030-9982, 04/2018, Volume 68, Issue 4, pp. 663 - 665
Journal Article
Biochemistry, ISSN 0006-2960, 12/2017, Volume 56, Issue 49, pp. 6470 - 6480
Mutations in the transforming growth factor beta-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the... 
ISOASPARTATE FORMATION | PEPTIDES | AMYLOID FORMATION | BETA-IG-H3 | ALZHEIMERS-DISEASE | STABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PURIFICATION | MOLECULAR CLOCKS | TGFBI GENE | LATTICE | Nuclear magnetic resonance spectroscopy | Amides | Usage | Liquid chromatography | Chemical properties | Index Medicus
Journal Article
Biomedical Reports, ISSN 2049-9434, 10/2017, Volume 7, Issue 4, pp. 314 - 318
Lattice corneal dystrophy type I (LCDI) is associated with a large number of missense mutations in the transforming growth factor β induced ( ) gene. The aim... 
Confocal microscopy | R124C mutation | Transforming growth factor β induced | Lattice corneal dystrophy type I
Journal Article
Case Reports in Ophthalmology, ISSN 1663-2699, 05/2017, Volume 8, Issue 2, pp. 446 - 451
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in... 
Familial amyloidosis | Corneal pathology | Gelsolin | Lattice corneal dystrophy | Meretoja syndrome | Finnish type | Pathology | Genetic counseling | Genetic testing | Mutation | Deoxyribonucleic acid--DNA | Familial amyloidosis, Finnish type
Journal Article
Journal Article
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
Muscle & Nerve, ISSN 0148-639X, 05/2016, Volume 53, Issue 5, pp. 762 - 769
IntroductionHereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice... 
cranial neuropathy | amyloidosis | gelsolin | bilateral facial paresis | facial paresis grading | Facial paresis grading | Amyloidosis | Gelsolin | Cranial neuropathy | Bilateral facial paresis | GSN GENE | NEUROSCIENCES | FINNISH TYPE FAF | POLYNEUROPATHY TYPE-IV | CLINICAL NEUROLOGY | LATTICE CORNEAL-DYSTROPHY | HEARING-LOSS | NEUROPATHY | FAMILIAL AMYLOIDOSIS | MERETOJAS SYNDROME | HEREDITARY AMYLOIDOSIS | MUTATION | Vestibulocochlear Nerve Diseases - physiopathology | Cutis Laxa - etiology | Humans | Middle Aged | Vestibulocochlear Nerve Diseases - etiology | Oculomotor Nerve Diseases - etiology | Male | Amyloid Neuropathies, Familial - physiopathology | Facial Nerve Diseases - etiology | Hypoglossal Nerve Diseases - physiopathology | Corneal Dystrophies, Hereditary - physiopathology | Facial Paralysis - physiopathology | Aged, 80 and over | Adult | Female | Electromyography | Amyloidosis - complications | Cranial Nerve Diseases - physiopathology | Hypoglossal Nerve Diseases - etiology | Trigeminal Nerve Diseases - physiopathology | Trigeminal Nerve Diseases - etiology | Amyloid Neuropathies, Familial - complications | Amyloidosis - physiopathology | Neural Conduction | Facial Nerve Diseases - physiopathology | Oculomotor Nerve Diseases - physiopathology | Facial Muscles - physiopathology | Cranial Nerve Diseases - etiology | Corneal Dystrophies, Hereditary - complications | Aged | Facial Paralysis - etiology | Development and progression | Paralysis, Facial | Gene mutations | Wood products | Workshops | Index Medicus
Journal Article
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