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Cell (Cambridge), ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Signal Transduction | Humans | Microtubule Proteins - metabolism | Zebrafish - embryology | Genes, Recessive | Cilia - metabolism | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Exome | MRE11 Homologue Protein | Animals | Zebrafish - metabolism | Kidney Diseases, Cystic - genetics | Mice | DNA Damage | Hypertension | Medical colleges | Molecular genetics | Children's hospitals | DNA damage | Genes | Automated teller machines | DNA repair | Proteins | Analysis | DNA | Medical genetics | Genetic research | Genetic aspects | Ophthalmology | Index Medicus | Medicin och hälsovetenskap
Journal Article
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Retinal Diseases - genetics | Humans | Molecular Sequence Data | Neoplasm Proteins - antagonists & inhibitors | Autoantigens - genetics | Case-Control Studies | Kidney Diseases - genetics | Gene Expression Regulation, Developmental | Retinal Diseases - pathology | Neoplasm Proteins - genetics | Cyclic AMP - metabolism | Fluorescent Antibody Technique, Indirect | Photoreceptor Cells, Vertebrate - ultrastructure | Genetic Association Studies | Kidney Diseases - pathology | RNA, Messenger - genetics | RNA, Small Interfering - pharmacology | Rats | Exons - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish - growth & development | Blotting, Western | Zebrafish - genetics | Centrosome - metabolism | Proteins - genetics | Homozygote | Two-Hybrid System Techniques | Animals | Proteins - metabolism | Family | Mice | Photoreceptor Cells, Vertebrate - metabolism | Subcellular Fractions | Gene mutations | Genetic aspects | Research | Kidney diseases | Health aspects | Retinal diseases | Risk factors | Studies | Genetics | Mutation | Genes | Cell cycle | Index Medicus
Journal Article
JAMA ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, pp. 398 - 399
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2011, Volume 121, Issue 6, pp. 2169 - 2180
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Line | Leber Congenital Amaurosis - physiopathology | Microtubule-Associated Proteins - genetics | Rod Cell Outer Segment - metabolism | Humans | Multiprotein Complexes | Recombinant Fusion Proteins - physiology | Protein Transport - physiology | Leber Congenital Amaurosis - genetics | Photoreceptor Connecting Cilium - physiology | Arrestins - metabolism | Protein Transport - genetics | Mice, Knockout | Microtubule-Associated Proteins - physiology | Protein Interaction Mapping | Vision, Ocular - physiology | Animals | Opsins - metabolism | Rod Cell Outer Segment - pathology | Eye Proteins - physiology | Mice | Eye Proteins - genetics | Microtubule-Associated Proteins - deficiency | Disease Models, Animal | Genetic disorders | Blindness | Index Medicus | Abridged Index Medicus
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An overview of leber congenital amaurosis: a model to understand human retinal development
2004, Volume 49, Issue 4, 20
CRB1 | GUCY2D | retinal cell rescue | CRX | gene therapy | RPE65 | photoreceptors | RPGRIP1 | congenital retinal dystrophy | childhood blindness | Leber congenital amaurosis | AIPL1 | retinal cell transplantation | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Vision disorders | Biological and medical sciences | Medical sciences | Retinopathies | Genetic Therapy | Retina - growth & development | Retina - cytology | Retinal Degeneration - genetics | Humans | Retinal Degeneration - therapy | Cell Transplantation | Blindness - congenital | Blindness - therapy | Retinal Degeneration - congenital | Blindness - genetics | Disease Models, Animal | Index Medicus
Book Review
The Journal of clinical investigation, ISSN 0021-9738, 06/2010, Volume 120, Issue 6, pp. 1812 - 1823
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Frameshift Mutation | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Syndrome | Hearing Loss - genetics | Homozygote | Phenotype | Usher Syndromes - genetics | Receptors, G-Protein-Coupled - genetics | Mutation | Usher Syndromes - metabolism | Siblings | Usher's syndrome | Care and treatment | Gene mutations | Development and progression | Genetic aspects | Properties | Retinal diseases | Identification and classification | Membrane proteins | Index Medicus | Abridged Index Medicus | Life Sciences
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
American journal of human genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 556 - 561
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Medical genetics | Antigens, Neoplasm - genetics | Alternative Splicing | RNA Splice Sites - genetics | Humans | Exons - genetics | Optic Atrophy, Hereditary, Leber - genetics | Homozygote | Optic Atrophy, Hereditary, Leber - pathology | Pedigree | Alleles | Consanguinity | Mutation | Neoplasm Proteins - genetics | Chromosomes, Human, Pair 12 - genetics | Gene mutations | Centrosomes | Causes of | Genetic aspects | Leber's congenital amaurosis | Research | Health aspects | Risk factors | Congenital diseases | Genetic disorders | Genes | Blindness | Children & youth | Index Medicus | Report
Journal Article
Human genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Reproducibility of Results | Genetic Testing | Molecular Chaperones - metabolism | Genetic Association Studies | Membrane Glycoproteins - metabolism | Exons | Humans | Computational Biology | Molecular Chaperones - genetics | Retinitis Pigmentosa - genetics | Genotype | Genes, Recessive | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Retinitis Pigmentosa - diagnosis | Phenotype | Pedigree | Alleles | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Retinitis pigmentosa | Genetic aspects | Index Medicus | retinitis pigmentosa | retinal capture NGS | blindness | next generation sequencing | whole exome sequencing | retinal genes
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 571 - 578
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Extracellular Matrix Proteins - chemistry | Genetic Predisposition to Disease | Chromosomes, Human - genetics | Extracellular Matrix Proteins - genetics | Humans | Middle Aged | Eye Proteins - chemistry | Molecular Sequence Data | Male | Mutation - genetics | Proteoglycans - chemistry | Young Adult | Phenotype | Vitelliform Macular Dystrophy - genetics | Pedigree | Base Sequence | Inheritance Patterns - genetics | Adult | Female | Eye Proteins - genetics | Fundus Oculi | Proteoglycans - genetics | Physiological aspects | Eye diseases | Genetic aspects | Research | Gene mutations | Gene expression | Proteins | Genotype & phenotype | Retina | Genetic disorders | Mutation | Index Medicus | Report
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