UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
Current genomics, ISSN 1389-2029, 06/2011, Volume 12, Issue 4, pp. 238 - 249
Syndromic retinitis pigmentosa | Mutations | Non-syndromic retinitis pigmentosa | X-linked | Retina | Recessive | Dominant | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | retinal degeneration | Retinitis pigmentosa | X chromosome | Data processing | Bardet-Biedl syndrome | Rods | Hereditary diseases | Eye | Reviews | Cones | Photoreceptors | Mutation | retinal pigment epithelium | mutations | dominant | retina | non-syndromic retinitis pigmentosa | recessive
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2019, Volume 126, Issue 8, pp. 1181 - 1188
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Male | DNA Mutational Analysis - methods | Genes, Recessive | DNA Copy Number Variations | Phenotype | Comparative Genomic Hybridization | Pedigree | Adult | Female | High-Throughput Nucleotide Sequencing | Mutation | Cohort Studies | Retinitis pigmentosa | Analysis | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, Recessive - genetics | Humans | Child, Preschool | Eye Proteins - chemistry | Retinitis Pigmentosa - genetics | Male | Photoreceptor Cells, Vertebrate - cytology | Mutation - genetics | Mutation, Missense - genetics | Young Adult | Phenotype | Animals | Eye Proteins - metabolism | Membrane Transport Proteins - genetics | Adolescent | Alleles | Female | Mice | Eye Proteins - genetics | Photoreceptor Cells, Vertebrate - metabolism | Induced Pluripotent Stem Cells - cytology | Child | Causes of | Genetic aspects | Gene mutations | Retinitis pigmentosa | Health aspects | Proteins | Cell culture | Genes | Rodents | Homeostasis | Retina | Mutation | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 3517 - 3517
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Retina - metabolism | Genes, Recessive - genetics | Humans | Amino Acid Transport System y+ - genetics | Male | Retina - embryology | Gene Knockdown Techniques | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Base Sequence | Female | Larva - genetics | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Organic Cation Transport Proteins - metabolism | Zebrafish Proteins - metabolism | Larva - metabolism | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Exome - genetics | Animals | Pedigree | Zebrafish - metabolism | Mice | Mutation | Zebrafish Proteins - genetics | Organic Cation Transport Proteins - genetics | Index Medicus | Medicin och hälsovetenskap
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 312 - 316
retinitis pigmentosa | syndromic disorder | SCAPER | autosomal recessive | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Carrier Proteins - genetics | Exome - genetics | Pedigree | Humans | Retinitis Pigmentosa - genetics | Heterozygote | Male | Eye Proteins - genetics | Mutation | Child | Whole Exome Sequencing | Medical students | Retinitis pigmentosa | Intellectual disabilities | Hyperactivity | Attention deficit hyperactivity disorder | Retinitis | Endoplasmic reticulum | Genetic screening | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 11/2008, Volume 40, Issue 11, pp. 1285 - 1287
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Structure, Tertiary | Cell Line | Humans | Gene Expression Regulation | Eye Proteins - chemistry | Retinitis Pigmentosa - genetics | Gene Expression Profiling | Drosophila Proteins - chemistry | Mutation - genetics | Genes, Recessive | Chromosomes, Human, Pair 6 - genetics | Protein Transport | Sequence Homology, Amino Acid | Animals | Eye Proteins - metabolism | Drosophila melanogaster - chemistry | Eye Proteins - genetics | Gene mutations | Retinitis pigmentosa | Drosophila | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Medical research | Genetics | Biomedical research | Mutation | Genes | Methods | Index Medicus
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 2013, Volume 54, Issue 6, pp. 4158 - 4166
Chinese population | Molecular diagnosis | Next-generation sequencing | Retinitis pigmentosa | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Molecular Diagnostic Techniques - methods | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Retinitis Pigmentosa - genetics | Male | Genes, Recessive | Retinitis Pigmentosa - diagnosis | Young Adult | China | Adolescent | Adult | Female | Mutation | Child | Sequence Analysis, DNA - methods | Cohort Studies | Index Medicus | retinitis pigmentosa | next-generation sequencing | molecular diagnosis
Journal Article
Cold Spring Harbor perspectives in medicine, ISSN 2157-1422, 10/2015, Volume 5, Issue 10, p. a017129
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Molecular Diagnostic Techniques | Genes, Recessive - genetics | Pedigree | Humans | Retinitis Pigmentosa - genetics | Genetic Linkage - genetics | Mutation - genetics | Genes, Dominant - genetics | Index Medicus | 086
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
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2011, Volume 118, Issue 7, pp. 1444 - 1448
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Miscellaneous | Medical sciences | Retinopathies | Electroretinography | Membrane Proteins - genetics | Humans | Night Blindness - etiology | Proline | Retinitis Pigmentosa - genetics | Tryptophan | Leucine | Genes, Recessive | Mutation, Missense - genetics | Retinitis Pigmentosa - diagnosis | DNA - genetics | Tissue Distribution | Young Adult | Retinitis Pigmentosa - complications | Microarray Analysis | Intracellular Space - metabolism | Adult | Audiometry, Pure-Tone | Consanguinity | Polymorphism, Single Nucleotide | Fundus Oculi | Retinitis Pigmentosa - physiopathology | Genetic Linkage | Neurosciences | Retinitis pigmentosa | Genetic aspects | Universities and colleges | Health aspects | Financial disclosure | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 04/2016, Volume 25, Issue 8, pp. 1479 - 1488
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease | Humans | Middle Aged | Cells, Cultured | N-Acetylglucosaminyltransferases - genetics | Retinitis Pigmentosa - genetics | Male | Glycosylation | Genes, Recessive | N-Acetylglucosaminyltransferases - metabolism | Exome | Animals | Pedigree | Adult | Female | Aged | Mice | Mutation | Photoreceptor Cells, Vertebrate - metabolism | Retinitis Pigmentosa - pathology | Sequence Analysis, DNA - methods | Index Medicus
Journal Article