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humans (30) 30
life sciences & biomedicine (29) 29
science & technology (29) 29
atp-binding cassette transporters - genetics (20) 20
abcr (19) 19
ophthalmology (17) 17
macular degeneration - genetics (16) 16
abcr gene (13) 13
male (13) 13
mutation (12) 12
stargardt disease (12) 12
abca4 (11) 11
female (11) 11
genetics & heredity (10) 10
macular degeneration (10) 10
adult (9) 9
biological and medical sciences (9) 9
medical sciences (9) 9
animals (8) 8
phenotype (8) 8
age-related macular degeneration (7) 7
dna mutational analysis (7) 7
genotype (7) 7
pedigree (7) 7
retinopathies (7) 7
biochemistry & molecular biology (6) 6
child (6) 6
cone-rod dystrophy (6) 6
retinitis pigmentosa (6) 6
atp-binding cassette transporters - chemistry (5) 5
atp-binding cassette transporters - metabolism (5) 5
fundus flavimaculatus (5) 5
retina (5) 5
retinitis pigmentosa - genetics (5) 5
rod cell outer segment - metabolism (5) 5
abcr protein (4) 4
adenosine triphosphate - metabolism (4) 4
adolescent (4) 4
aged (4) 4
amino acid sequence (4) 4
dark adaptation (4) 4
eye diseases - genetics (4) 4
genes, recessive (4) 4
macular degeneration - metabolism (4) 4
macular degeneration - pathology (4) 4
macular degeneration - physiopathology (4) 4
macular dystrophy (4) 4
middle aged (4) 4
retinal degeneration - genetics (4) 4
retinal dystrophies (4) 4
stargardt's disease (4) 4
stgd (4) 4
abca4 gene (3) 3
alleles (3) 3
cell biology (3) 3
chromosomes, human, pair 1 - genetics (3) 3
corneal dystrophies, hereditary - genetics (3) 3
dna - chemistry (3) 3
dna - genetics (3) 3
electroretinography (3) 3
eye proteins - genetics (3) 3
eye proteins - metabolism (3) 3
fluorescein angiography (3) 3
founder mutation (3) 3
genetic aspects (3) 3
genetics (3) 3
macula lutea - pathology (3) 3
membrane proteins - genetics (3) 3
molecular sequence data (3) 3
mutation, missense (3) 3
photoreceptors (3) 3
retinal degeneration - pathology (3) 3
retinal diseases - genetics (3) 3
stargardt macular dystrophy (3) 3
vision, ocular (3) 3
adenosine triphosphate (2) 2
atp-binding cassette transporters - physiology (2) 2
autofluorescence (2) 2
biological transport (2) 2
candidate genes (2) 2
carrier frequency (2) 2
cattle (2) 2
chromosome mapping (2) 2
cis-trans-isomerases (2) 2
cone‐rod dystrophy (2) 2
cone–rod dystrophy (2) 2
corneal dystrophies, hereditary - pathology (2) 2
dark adaptation - physiology (2) 2
deoxyribonucleic acid--dna (2) 2
disease (2) 2
electroretinogram (2) 2
exons - genetics (2) 2
family health (2) 2
fluorescence (2) 2
fundus oculi (2) 2
genes (2) 2
genetic disorders (2) 2
genetic linkage (2) 2
genetic structures (2) 2
genetic variation (2) 2
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1. Full Text Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
by Jaakson, K and Zernant, J and Kulm, M and Hutchinson, A and Tonisson, N and Glavac, D and Ravnik-Glavac, M and Hawlina, M and Meltzer, M.R and Caruso, R.C and Testa, F and Maugeri, A and Hoyng, C.B and Gouras, P and Simonelli, F and Lewis, R.A and Lupski, J.R and Cremers, F.P.M and Allikmets, R
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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2. Full Text The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
by Runhart, Esmee H and Sangermano, Riccardo and Cornelis, Stephanie S and Verheij, Joke B. G. M and Plomp, Astrid S and Boon, Camiel J. F and Lugtenberg, Dorien and Roosing, Susanne and Bax, Nathalie M and Blokland, Ellen A. W and Jacobs-Camps, Marlie H. M and van der Velde-Visser, Saskia D and Pott, Jan-Willem R and Rohrschneider, Klaus and Thiadens, Alberta A. H. J and Klaver, Caroline C. W and van den Born, L. Ingeborgh and Hoyng, Carel B and Cremers, Frans P. M
Investigative ophthalmology & visual science, ISSN 0146-0404, 07/2018, Volume 59, Issue 8, pp. 3220 - 3231
retinal dystrophy | ABCA4 protein | GENE ABCR | PHENOTYPES | modifiers | nonpenetrance | CONE-ROD DYSTROPHY | DEEP-INTRONIC VARIANTS | MUTATION | Stargardt disease | RETINITIS-PIGMENTOSA | PROGRESSION | REVEALS
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3. Full Text Retreatment with TACE: The ABCR SCORE, an aid to the decision-making process
by Adhoute, Xavier and Penaranda, Guillaume and Naude, Sebastien and Raoul, Jean Luc and Perrier, Herve and Bayle, Olivier and Monnet, Olivier and Beaurain, Patrick and Bazin, Christophe and Pol, Bernard and Folgoc, Gaelle Le and Castellani, Paul and Bronowicki, Jean Pierre and Bourlière, Marc
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
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4. Full Text Comparison of short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt Macular Dystrophy
by Strauss, Rupert W and Muñoz, Beatriz and Jha, Anamika and Ho, Alexander and Cideciyan, Artur V and Kasilian, Melissa L and Wolfson, Yulia and Sadda, SriniVas and West, Sheila and Scholl, Hendrik P.N and Michaelides, Michel
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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5. Full Text Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy
by Thiadens, Alberta A. H. J and Phan, T. My Lan and Zekveld-Vroon, Renate C and Leroy, Bart P and van den Born, L. Ingeborgh and Hoyng, Carel B and Klaver, Caroline C. W and Roosing, Susanne and Pott, Jan-Willem R and van Schooneveld, Mary J and van Moll-Ramirez, Norka and van Genderen, Maria M and Boon, Camiel J. F and den Hollander, Anneke I and Bergen, Arthur A. B and De Baere, Elfride and Cremers, Frans P. M and Lotery, Anew J
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 04/2012, Volume 119, Issue 4, pp. 819 - 826
STARGARDT MACULAR DYSTROPHY | PROGRESSIVE CONE | ABCA4 ABCR GENE | MUTATION | DISEASE | PHENOTYPE | AUTOSOMAL RECESSIVE CONE | RPGR EXON | RETINITIS-PIGMENTOSA | UMCG Approved | PHOTORECEPTORS
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6. Full Text ETIOPATHOGENETIC FEATURE OF STARGHARDT DISEASE. THE OPPORTUNITIES OF CLINICAL AND MOLECULAR GENETIC DIAGNOSIS (LITERATURE REVIEW)
by M. F. Shurygina and S. A. Borzenok and O. V. Khlebnikova
Oftalʼmokhirurgii͡a︡ = Ophthalmosurgery, ISSN 0235-4160, 12/2015, Issue 3, pp. 97 - 101
abcr gene | starghardt disease | optical coherence tomography | molecular genetic diagnosis | autofluorescence
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7. Full Text The American Board of Colon and Rectal Surgery: Past, Present, and Future
by Schoetz, David J
Clinics in colon and rectal surgery, ISSN 1531-0043, 09/2012, Volume 25, Issue 3, pp. 166 - 170
ABCRS | maintenance of certification | certification
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8. Full Text Review of Genetics in Age Related Macular Degeneration
by Montezuma, Sandra R and Sobrin, Lucia and Seddon, Johanna M
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
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9. Full Text Novel mutations in of the ABCR gene in italian patients with Stargardt disease
by Passerini, I and Sodi, A and Giambene, B and Mariottini, A and Menchini, U and Torricelli, F
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
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10. Full Text The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
by Maugeri, A and Flothmann, K and Hemmrich, N and Ingvast, S and Jorge, P and Paloma, E and Patel, R and Rozet, JM and Tammur, J and Testa, F and Balcells, S and Bird, AC and Brunner, HG and Hoyng, CB and Metspalu, A and Simonelli, F and Allikmets, R and Bhattacharya, SS and D'Urso, M and Gonzalez-Duarte, R and Kaplan, J and Meerman, GJT and Santoss, R and Schwartz, M and Van Camp, G and Wadelius, C and Weber, BHF and Cremers, FPM
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
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11. Full Text Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal
by Biswas-Fiss, Esther E and Kurpad, Deepa S and Joshi, Kinjalben and Biswas, Subhasis B
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
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12. Full Text Biochemical defects in ABCR protein variants associated with human retinopathies
by Sun, Hui and Nathans, Jeremy and Smallwood, Philip M
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
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13. Full Text The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease
by Maugeri, Alessandra and van Driel, Marc A and van de Pol, Dorien J.R and Klevering, B. Jeroen and van Haren, Frank J.J and Tijmes, Nel and Bergen, Arthur A.B and Rohrschneider, Klaus and Blankenagel, Anita and Pinckers, Alfred J.L.G and Dahl, Niklas and Brunner, Han G and Deutman, August F and Hoyng, Carel B and Cremers, Frans P.M
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
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14. Full Text The Effect of Lipid Environment and Retinoids on the ATPase Activity of ABCR, the Photoreceptor ABC Transporter Responsible for Stargardt Macular Dystrophy
by Jinhi Ahn and Jason T. Wong and Robert S. Molday
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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