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Investigative ophthalmology & visual science, ISSN 0146-0404, 07/2018, Volume 59, Issue 8, pp. 3220 - 3231
Journal Article
Frontiers in genetics, ISSN 1664-8021, 2019, Volume 10, pp. 773 - 773
Mutation spectrum4 | ABCA4 gene3 | Next-generation sequencing2 | STGD11 | Variant frequency5 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye diseases | Genes | Analysis | Genetic screening | mutation spectrum | variant frequency | STGD1 | next-generation sequencing | ABCA4 gene
Journal Article
Experimental eye research, 01/2021, Volume 202, pp. 108389 - 108389
Journal Article
Translational vision science & technology, ISSN 2164-2591, 06/2020, Volume 9, Issue 7, pp. 20 - 20
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International journal of molecular sciences, ISSN 1422-0067, 05/2020, Volume 21, Issue 10, p. 3430
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Hair | Disease | Transcription | Retina | Nucleotides | Gene expression | Follicles | Macular degeneration | Pathogenicity | Proteins | Fibroblasts | Photoreceptors | Eye diseases | Mutation | Index Medicus | hair follicles | Stargardt disease | ABCA4 retinopathies | ABCA4 gene mutations | molecular analysis | splice-site variants
Journal Article
Genetics in medicine, ISSN 1098-3600, 08/2019, Volume 21, Issue 8, pp. 1751 - 1760
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 10/2019, Volume 60, Issue 13, pp. 4249 - 4256
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 06/2016, Volume 57, Issue 7, pp. 3257 - 3267
Early stress response | Rdh8 | mice | RPE | Abca4 | Visual cycle | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Retinal Pigment Epithelium - metabolism | Lipocalin-2 - biosynthesis | Oxidative Stress | Humans | Alcohol Oxidoreductases - biosynthesis | Retinal Degeneration - metabolism | RNA - genetics | Alcohol Oxidoreductases - genetics | Retinal Pigment Epithelium - pathology | ATP-Binding Cassette Transporters - genetics | Mice, Mutant Strains | Light | Cell Death | Retinal Pigment Epithelium - radiation effects | Lipocalin-2 - genetics | Real-Time Polymerase Chain Reaction | Disease Models, Animal | Acute Disease | Enzyme-Linked Immunosorbent Assay | Tomography, Optical Coherence | Mice, Inbred C57BL | Cells, Cultured | Gene Expression Regulation | ATP-Binding Cassette Transporters - biosynthesis | Animals | Mice | Retinal Degeneration - pathology | Index Medicus | visual cycle, early stress response, RPE, Abca4 | Retinal Cell Biology
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 11/2020, Volume 61, Issue 13, pp. 1 - 1
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Genetics in medicine, ISSN 1098-3600, 2020, Volume 22, Issue 7, pp. 1235 - 1246
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 05/2018, Volume 59, Issue 6, pp. 2305 - 2315
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 01/2017, Volume 58, Issue 1, pp. 394 - 403
Stargardt disease | Mutation screening | Genetic risk score | ABCA4 | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Follow-Up Studies | Exons | Introns | Humans | Male | DNA - genetics | Macular Degeneration - metabolism | Macular Degeneration - congenital | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | DNA Mutational Analysis | Pedigree | Alleles | ATP-Binding Cassette Transporters - metabolism | Female | Polymorphism, Single Nucleotide | Retrospective Studies | Mutation | Index Medicus | mutation screening | Genetics | genetic risk score
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2014, Volume 55, Issue 5, pp. 2841 - 2852
Lipofuscin | Recessive Stargardt disease | Scanning laser ophthalmoscope | Quantitative fundus autofluorescence | Retinal pigment epithelium | ABCA4 | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Reproducibility of Results | Prospective Studies | Humans | Middle Aged | Fluorescence | Male | Case-Control Studies | Young Adult | Retinal Pigment Epithelium - pathology | Macular Degeneration - congenital | Macular Degeneration - genetics | Adolescent | Adult | Female | Ophthalmoscopy - methods | Child | Fundus Oculi | Macular Degeneration - pathology | Index Medicus | lipofuscin | scanning laser ophthalmoscope | retinal pigment epithelium | recessive Stargardt disease | quantitative fundus autofluorescence
Journal Article
Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 4, pp. 400 - 408
retinal dystrophy | meta‐analysis | in silico prediction | genotype‐phenotype correlation | ABCA4 | mild variants | meta-analysis | genotype-phenotype correlation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Severity of Illness Index | Phenotype | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Gene Frequency | Humans | Alleles | Retinal Dystrophies - pathology | Genotype | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Analysis | Eye diseases | Genetic disorders | Meta-analysis | Index Medicus
Journal Article
Translational vision science & technology, ISSN 2164-2591, 11/2018, Volume 7, Issue 6, pp. 10 - 10
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Full Text
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
Retina (Philadelphia, Pa.), ISSN 0275-004X, 12/2019, Volume 39, Issue 12, pp. 2311 - 2325
Journal Article