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science & technology (17) 17
life sciences & biomedicine (16) 16
macular degeneration (13) 13
ophthalmology (13) 13
humans (10) 10
macular degeneration - genetics (8) 8
eye diseases (7) 7
female (7) 7
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aged (6) 6
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sense organs (6) 6
complement factor h - genetics (5) 5
genetic structures (5) 5
genetics & heredity (5) 5
physiological aspects (5) 5
polymorphism, single nucleotide (5) 5
research (5) 5
abridged index medicus (4) 4
biochemistry & molecular biology (4) 4
genes (4) 4
genetic aspects (4) 4
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genetics (4) 4
genomics (4) 4
genotype (4) 4
usage (4) 4
age-related macular degeneration (3) 3
aged, 80 and over (3) 3
alleles (3) 3
analysis (3) 3
complement factor h (3) 3
exome sequencing (3) 3
genetic screening (3) 3
genotype & phenotype (3) 3
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macular degeneration - diagnosis (3) 3
macular degeneration - metabolism (3) 3
medicine & public health (3) 3
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age (2) 2
age‐related macular degeneration (2) 2
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basic medicine (2) 2
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cellular and molecular neuroscience (2) 2
complement c3 - genetics (2) 2
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complement factor i - genetics (2) 2
complement system (2) 2
cone-rod dystrophy (2) 2
data processing (2) 2
dna - genetics (2) 2
fluorescein (2) 2
gene frequency (2) 2
gene mutations (2) 2
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geographic atrophy - diagnosis (2) 2
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retinal drusen - genetics (2) 2
retinitis pigmentosa (2) 2
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whole exome sequencing (2) 2
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amd (1) 1
amd, age-related macular degeneration (1) 1
amino acid substitution (1) 1
angiography (1) 1
annovar, annotate variation (1) 1
apolipoproteins - genetics (1) 1
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1. Full Text The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
by Geerlings, Maartje J and de Jong, Eiko K and den Hollander, Anneke I
Molecular immunology, ISSN 0161-5890, 04/2017, Volume 84, pp. 65 - 76
Complement system | Rare genetic variants | Age-related macular degeneration | Alternative pathway | Biochemistry & Molecular Biology | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Genetic Predisposition to Disease - genetics | Animals | Macular Degeneration - genetics | Macular Degeneration - immunology | Humans | Aging | Complement System Proteins - genetics | Macular degeneration | Genetic research | Physiological aspects | Medicine, Experimental | Medical research | Index Medicus
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2. Full Text Monocarboxylate Transporter 1 Deficiency and Ketone Utilization
by van Hasselt, Peter M and Ferdinandusse, Sacha and Monroe, Glen R and Ruiter, Jos P.N and Turkenburg, Marjolein and Geerlings, Maartje J and Duran, Karen and Harakalova, Magdalena and van der Zwaag, Bert and Monavari, Ardeshir A and Okur, Ilyas and Sharrard, Mark J and Cleary, Maureen and O’Connell, Nuala and Walker, Valerie and Rubio-Gozalbo, M. Estela and de Vries, Maaike C and Visser, Gepke and Houwen, Roderick H.J and van der Smagt, Jasper J and Verhoeven-Duif, Nanda M and Wanders, Ronald J.A and van Haaften, Gijs
The New England journal of medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 20, pp. 1900 - 1907
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Monocarboxylic Acid Transporters - physiology | Frameshift Mutation | Symporters - physiology | Ketosis - genetics | Monocarboxylic Acid Transporters - deficiency | Humans | Ketone Bodies - metabolism | Symporters - deficiency | Child, Preschool | Genotype | Infant | Biological Transport | Symporters - genetics | Polymorphism, Single Nucleotide | Monocarboxylic Acid Transporters - genetics | Mutation | Child | Ketones - metabolism | Diabetic acidosis | Usage | Gene mutations | Ketoacidosis | Exome sequencing | Genetic aspects | Research | Acid-base equilibrium | Risk factors | Ketones | Genes | Liver | Genetic analysis | Frameshift mutation | Ketone bodies | Organic chemicals | Protein transport | Index Medicus | Abridged Index Medicus
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3. Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the complement factor H gene
by Kersten, Eveline and Geerlings, Maartje J and Den Hollander, Anneke I and De Jong, Eiko K and Fauser, Sascha and Peto, Tunde and Hoyng, Carel B
JAMA ophthalmology, ISSN 2168-6165, 10/2017, Volume 135, Issue 10, pp. 1037 - 1044
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Retinal Drusen - genetics | Genetic Testing | Cross-Sectional Studies | Retinal Drusen - pathology | Humans | Middle Aged | Male | Genotyping Techniques | Macular Degeneration - diagnosis | Phenotype | Macular Degeneration - genetics | Adult | Female | Aged | Polymorphism, Single Nucleotide | Retrospective Studies | Complement Factor H - genetics | Databases, Factual | Fluorescein Angiography
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4. Full Text Family-based exome sequencing identifies rare coding variants in age-related macular degeneration
by Ratnapriya, R and Acar, I.E and Geerlings, M.J and Branham, K and Kwong, A and Saksens, N.T.M and Pauper, M and Corominas, J and Kwicklis, M and Zipprer, D and Starostik, M.R and Othman, M and Yashar, B and Abecasis, G.R and Chew, E.Y and Ferrington, D.A and Hoyng, C.B and Swaroop, A and Hollander, A.I. den
Human molecular genetics, ISSN 0964-6906, 2020, Volume 29, Issue 12, pp. 2022 - 2034
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus | AcademicSubjects | General | SCI01140
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5. Full Text Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration
by Kersten, E and Geerlings, M.J and Pauper, M and Corominas, J and Bakker, B and Altay, Lebriz and Jong, E.K. de and Hoyng, C.B and Hollander, A.I. den
Clinical genetics, ISSN 0009-9163, 2018, Volume 94, Issue 6, pp. 569 - 574
CACD | macular dystrophies | genetic screening | age‐related macular degeneration | WES | PRPH2 | AMD | central areolar choroidal dystrophy | whole‐exome sequencing | age-related macular degeneration | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genetic Testing | Geographic Atrophy - genetics | Geographic Atrophy - diagnosis | Humans | Genetic Association Studies - methods | Genotype | Male | Case-Control Studies | Macular Degeneration - diagnosis | Whole Exome Sequencing | Phenotype | Genes, Dominant | Macular Degeneration - genetics | Alleles | Aged, 80 and over | Female | Aged | Amino Acid Substitution | Macular degeneration | Fluorescein | Physiological aspects | Fluorescence | Genetic aspects | Health aspects | Genetic screening | Atrophy | Clinical trials | Retina | Data processing | Mimicry | Index Medicus | Short Reports | Short Report
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6. Full Text Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration
by Lores-Motta, L and Paun, C.C and Corominas, J and Pauper, M and Geerlings, M.J and Altay, L and Schick, T and Daha, M.R and Fauser, S and Hoyng, C.B and Hollander, A.I. den and Jong, E.K. de
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2018, Volume 125, Issue 7, pp. 1064 - 1074
Haplotypes | Genome-Wide Association Study | Complement C3 - metabolism | Humans | Middle Aged | Male | Genotyping Techniques | Macular Degeneration - blood | Complement C3d - metabolism | Macular Degeneration - genetics | Apolipoproteins - genetics | Triglycerides - blood | Aged, 80 and over | Cholesterol, HDL - blood | Female | Aged | Polymorphism, Single Nucleotide | Complement Factor H - genetics | Complement Activation - physiology | Macular degeneration | Genetic research | Physiological aspects | Analysis | Genomics | Index Medicus
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7. Full Text Geographic distribution of rare variants associated with age-related macular degeneration
by Geerlings, M.J and Kersten, E and Groenewoud, J.M.M and Fritsche, Lars G and Hoyng, C.B and Jong, E.K. de and Hollander, A.I. den
Molecular vision, ISSN 1090-0535, 2018, Volume 24, pp. 75 - 82
Biochemistry & Molecular Biology | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Macular degeneration | Geographical distribution | Gene frequency | Genomics | Population studies | Age | Geriatrics | Index Medicus
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8. Full Text Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation
by Lorés-Motta, Laura and Paun, Constantin C and Corominas, Jordi and Pauper, Marc and Geerlings, Maartje J and Altay, Lebriz and Schick, Tina and Daha, Mohamed R and Fauser, Sascha and Hoyng, Carel B and den Hollander, Anneke I and de Jong, Eiko K
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 07/2018, Volume 125, Issue 7, pp. 1064 - 1074
Life Sciences & Biomedicine | Ophthalmology | Science & Technology
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9. Full Text Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration
by Kremlitzka, Mariann and Geerlings, M.J and Jong, S. de and Bakker, B and Nilsson, Sara C and Fauser, Sascha and Hoyng, C.B and Hollander, A.I. den and Blom, Anna M
Human molecular genetics, ISSN 0964-6906, 2018, Volume 27, Issue 15, pp. 2678 - 2688
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Oftalmologi | Medicinska och farmaceutiska grundvetenskaper | Ophthalmology | Klinisk medicin
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10. Rare genetic variants associated with development of age-related macular degeneration
by Saksens, Nicole T.M and Geerlings, Maartje J and Bakker, Bjorn and Schick, Tina and Daha, Mohamed R and Fauser, Sascha and Boon, Camiel J.F and De Jong, Eiko K and Hoyng, Carel B and Den Hollander, Anneke I
JAMA ophthalmology, ISSN 2168-6165, 03/2016, Volume 134, Issue 3, pp. 287 - 293
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Geographic Atrophy - genetics | Geographic Atrophy - diagnosis | Humans | Middle Aged | Complement Factor I - genetics | Geographic Atrophy - physiopathology | Male | Wet Macular Degeneration - physiopathology | Wet Macular Degeneration - genetics | Genotyping Techniques | Case-Control Studies | Wet Macular Degeneration - diagnosis | Pedigree | Polymerase Chain Reaction | Female | Heterozygote | Aged | Complement C9 - genetics | Polymorphism, Single Nucleotide | Retrospective Studies | Complement Factor H - genetics | Odds Ratio | Complement C3 - genetics | Visual Acuity - physiology
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11. Full Text Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane
by Corominas, Jordi and Colijn, Johanna M and Geerlings, Maartje J and Pauper, Marc and Bakker, Bjorn and Amin, Najaf and Lores Motta, Laura and Kersten, Eveline and Garanto, Alejandro and Verlouw, Joost A.M and van Rooij, Jeroen G.J and Kraaij, Robert and de Jong, Paulus T.V.M and Hofman, Albert and Vingerling, Johannes R and Schick, Tina and Fauser, Sascha and de Jong, Eiko K and van Duijn, Cornelia M and Hoyng, Carel B and Klaver, Caroline C.W and den Hollander, Anneke I
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. 1433 - 1443
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Immunohistochemistry | Genetic Testing | Bruch Membrane - pathology | Humans | Mice, Inbred C57BL | Middle Aged | Male | Macular Degeneration - diagnosis | Whole Exome Sequencing | DNA - genetics | Macular Degeneration - metabolism | Animals | Macular Degeneration - genetics | Collagen Type VIII - metabolism | Female | Aged | Mice | Genome-Wide Association Study - methods | Bruch Membrane - metabolism | Retina - pathology | Collagen Type VIII - genetics | Macular degeneration | Physiological aspects | Analysis | Index Medicus | UBE3D, Ubiquitin Protein Ligase E3D | ANNOVAR, Annotate Variation | GA, geographic atrophy | TIMP3, Tissue Inhibitor of Metalloproteinases 3 | CMC, Combined Multivariate and Collapsing | SLC16A8, Solute Carrier Family 16 Member 8 | VQSLOD, Variant Quality Score Log-ODds | GATK, Genome Analysis ToolKit | MAF, minor allele frequency | WES, whole-exome sequencing | ARMS2, Age-Related Maculopathy Susceptibility 2 | SIFT, Sorting Tolerant From Intolerant | AMD, age-related macular degeneration | GWAS, genome-wide association study | CADD, Combined Annotation Dependent Depletion | NC2, non-collagenous domain 2 | CFH, complement factor H | COL8A1, Collagen Type VIII Alpha 1 Chain | PBS, phosphate-buffered saline | SNP, single nucleotide polymorphism | CFI, complement factor I | NC1, non-collagenous domain 1 | CNV, choroidal neovascularization
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