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Human mutation, ISSN 1059-7794, 2003, Volume 22, Issue 5, pp. 395 - 403
microarray | mutation detection | genotyping | ABCA4 | mutation screening | Stargardt disease | STGD1 | ABCR | Mutation detection | Genotyping | Mutation screening | Microarray | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Retinal Diseases - genetics | Reproducibility of Results | ATP-Binding Cassette Transporters - genetics | Oligonucleotide Array Sequence Analysis - methods | Humans | Genotype | DNA Mutational Analysis - methods | Polymorphism, Genetic | ABCR gene | gene chips | DNA microarrays | Index Medicus
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Investigative ophthalmology & visual science, ISSN 0146-0404, 07/2018, Volume 59, Issue 8, pp. 3220 - 3231
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Journal of hepatology, ISSN 0168-8278, 2014, Volume 62, Issue 4, pp. 855 - 862
Gastroenterology and Hepatology | ABCR score | BCLC | TACE | HCC | Radiological response | Chemoembolization | ART score | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Multivariate Analysis | Prognosis | Outcome Assessment (Health Care) | Chemoembolization, Therapeutic - statistics & numerical data | Humans | Middle Aged | Decision Support Techniques | Male | Retreatment - statistics & numerical data | Liver Neoplasms - therapy | Chemoembolization, Therapeutic - methods | Propensity Score | Carcinoma, Hepatocellular - pathology | Female | Liver Neoplasms - pathology | Aged | Carcinoma, Hepatocellular - therapy | Retrospective Studies | Retreatment - methods | France | Neoplasm Staging | Decision-making | Index Medicus | Life Sciences
Journal Article
American journal of ophthalmology, ISSN 0002-9394, 2016, Volume 168, pp. 269 - 278
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Reproducibility of Results | Macular Degeneration - physiopathology | Humans | Middle Aged | Male | Macular Degeneration - congenital | Adult | Female | Ophthalmoscopy - methods | Fundus Oculi | Optical Imaging - methods | Fluorescein Angiography | Macula Lutea - pathology | Macular Degeneration - pathology | Fluorescence | Medical colleges | Comparative analysis | Diabetic retinopathy | Medical imaging | Clinical trials | Retina | Macular degeneration | Studies | Ethics | Lasers | Light | Quality | Stem cells | Photoreceptors | Mutation | Index Medicus | Abridged Index Medicus | Original
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Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 04/2012, Volume 119, Issue 4, pp. 819 - 826
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Oftalʼmokhirurgii͡a︡ = Ophthalmosurgery, ISSN 0235-4160, 12/2015, Issue 3, pp. 97 - 101
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Clinics in colon and rectal surgery, ISSN 1531-0043, 09/2012, Volume 25, Issue 3, pp. 166 - 170
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Seminars in ophthalmology, ISSN 0882-0538, 2007, Volume 22, Issue 4, pp. 229 - 240
Clinical Age-Related Maculopathy Grading System (CARMS) | adenosine triphosphate (ATP) | complement component 2 (C2) | Factor B (BF) | vascular endothelial growth factor (VEGF) | geographic atrophy (GA) | binding cassette rim (ABCR) protein | age-related macular degeneration (AMD) | apolipoprotein E (APOE) | single nucleotide polymorphism (SNP) | choroidal neovascularization (CNV) | LOC387715/HTRA1 gene | Complement Factor H (CFH) gene | retinal pigment epithelium (RPE) | Clinical Age-Related Maculopathy Grading System (C | Apolipoprotein E (APOE) | Age-related macular degeneration (AMD) | Complement component 2 (C2) | Adenosine triphosphate (ATP) | Binding cassette rim (ABCR) protein | Choroidal neovascularization (CNV) | Genetic Predisposition to Disease | Macular Degeneration - genetics | Membrane Proteins - genetics | Humans | Risk Factors | Complement C2 - genetics | Complement Factor H - genetics | Intracellular Signaling Peptides and Proteins - genetics | Index Medicus
Journal Article
Eye (London), ISSN 0950-222X, 2010, Volume 24, Issue 1, pp. 158 - 164
Mutations | ABCR gene | Stargardt disease | Macular dystrophies | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Biological and medical sciences | Miscellaneous | Medical sciences | Humans | Middle Aged | Exons - genetics | Genotype | Male | Sequence Analysis, DNA | Young Adult | Phenotype | Macular Degeneration - congenital | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | DNA Mutational Analysis | Adolescent | Adult | Female | Italy | Aged | Mutation | Child | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 03/2002, Volume 10, Issue 3, pp. 197 - 203
ABCA4 | carrier frequency | RECESSIVE RETINITIS-PIGMENTOSA | PHENOTYPE | MACULAR DEGENERATION | POPULATIONS | UMCG Approved | ABCR | DISEASE GENE ABCR | CONE-ROD DYSTROPHY | TRANSPORTER GENE | STGD | retinal dystrophies | FOUNDER | EXPRESSION | founder mutation | PHOTORECEPTORS | Founder mutation | Carrier frequency | Retinal dystrophies
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 06/2010, Volume 285, Issue 25, pp. 19372 - 19383
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Protein Structure, Tertiary | Amino Acid Sequence | Retina - metabolism | Protein Structure, Secondary | Humans | Molecular Sequence Data | Retinaldehyde - chemistry | Sequence Homology, Amino Acid | ATP-Binding Cassette Transporters - chemistry | Animals | Microscopy, Fluorescence - methods | Anisotropy | Vision, Ocular | Adenosine Triphosphate - metabolism | Circular Dichroism | Index Medicus | Stargardt Disease | Molecular Bases of Disease | Extracellular Domain | Membrane Biology | ABC Transporter | Vision | Circular Dichroism (CD) | ABCA4 | Fluorescence | Retina | ABCR | Macular Degeneration
Journal Article
Nature genetics, ISSN 1061-4036, 10/2000, Volume 26, Issue 2, pp. 242 - 246
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Recombinant Proteins - metabolism | Amino Acid Sequence | Mutagenesis, Site-Directed | Rod Cell Outer Segment - metabolism | Humans | Molecular Sequence Data | Retinitis Pigmentosa - genetics | Genes, Recessive | Genetic Variation | Sequence Homology, Amino Acid | ATP-Binding Cassette Transporters - chemistry | Sequence Alignment | Eye Diseases - genetics | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Adenosine Triphosphate - metabolism | ATP-Binding Cassette Transporters - metabolism | Kinetics | Complications and side effects | Gene mutations | Genetic variation | Physiological aspects | Genetic aspects | Diagnosis | Retinal diseases | Risk factors | ABCR protein | ABCA4 gene | Stargardt disease | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 1999, Volume 64, Issue 4, pp. 1024 - 1035
STGD | Retina | Genotype-phenotype correlation | Founder mutation | Retinal dystrophies | ABCR | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Humans | Corneal Dystrophies, Hereditary - genetics | RNA, Messenger - analysis | Retinitis Pigmentosa - epidemiology | Incidence | Founder Effect | Point Mutation - genetics | ATP-Binding Cassette Transporters - chemistry | ATP-Binding Cassette Transporters - genetics | Corneal Dystrophies, Hereditary - pathology | DNA Mutational Analysis | Base Sequence | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Gene Frequency | RNA, Messenger - genetics | Cells, Cultured | Europe - epidemiology | Linkage Disequilibrium - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Genotype | Corneal Dystrophies, Hereditary - epidemiology | Phenotype | Polymorphism, Genetic - genetics | Genetic aspects | Genetic disorders | Research | Retinal diseases | Index Medicus
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 07/2000, Volume 275, Issue 27, pp. 20399 - 20405
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Vitamin A - pharmacology | Humans | Proteolipids - metabolism | Adenosine Triphosphatases - metabolism | Enzyme Activation - drug effects | Phospholipids - pharmacology | Cholic Acids - pharmacology | Retinitis Pigmentosa - enzymology | Animals | GTP Phosphohydrolases - metabolism | Lipids - pharmacology | Transfection | Cattle | Retinaldehyde - pharmacology | ATP-Binding Cassette Transporters - metabolism | Kinetics | Rod Cell Outer Segment - enzymology | COS Cells | Retinoids - pharmacology | ABCR protein | retinoids | Stargardt macular dystrophy | Index Medicus
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