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1. Full Text A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
by Bernardina, Bernardo Dalla and Murday, Victoria and Zuffardi, Orsetta and Gimelli, Giorgio and Stevenson, Roger E and Ciccone, Roberto and Schwartz, Charles E and Castiglia, Lucia and Barbacioru, Catalin and Failla, Pinella and Schroer, Richard J and De Gregori, Manuela and Ventura, Mario and Casuga, Iris and Romano, Corrado and Fichera, Marco and Chen, Caifu and Jiang, Zhaoshi and Broomer, Adam and Mansour, Sahar and Sharp, Andrew J and Skinner, Cindy and Regan, Regina and Xiao, Chunlin and Giorda, Roberto and Cooper, Gregory M and Knight, Samantha J L and Mefford, Heather C and Novara, Francesca and Torniero, Claudia and Eichler, Evan E and Li, Kelly and Baker, Carl and Wang, Yu
Nature genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 322 - 328
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Seizures - genetics | Gene Frequency | Humans | Child, Preschool | Male | Syndrome | Intellectual Disability - genetics | Inheritance Patterns | Pedigree | Chromosomes, Human, Pair 15 | Gene Deletion | Adolescent | Female | Child | Receptors, Nicotinic - genetics | Chromosome Breakage | alpha7 Nicotinic Acetylcholine Receptor | Polymerase chain reaction | Complications and side effects | Usage | Genetic disorders | Research | Seizures (Medicine) | Mental retardation | Risk factors | Genotype & phenotype | Genetic markers | Convulsions & seizures | Intellectual disabilities | Index Medicus | epilepsy | segmental duplication | array CGH | genomic disorder | CHRNA7
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2. Full Text Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
by Sharp, Anew J and Hansen, Sierra and Selzer, Rebecca R and Cheng, Ze and Regan, Regina and Hurst, Jane A and Stewart, Helen and Price, Sue M and Blair, Edward and Hennekam, Raoul C and Fitzpatrick, Carrie A and Segraves, Rick and Richmond, Todd A and Guiver, Cheryl and Albertson, Donna G and Pinkel, Daniel and Eis, Peggy S and Schwartz, Stuart and Knight, Samantha J. L and Eichler, Evan E
Nature genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 1038 - 1042
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Chromosome Deletion | Gene Duplication | Nucleic Acid Hybridization | Oligonucleotide Array Sequence Analysis | Physical Chromosome Mapping | Humans | In Situ Hybridization, Fluorescence | Gene Dosage | Intellectual Disability - genetics | Polymorphism, Genetic | Chromosomes, Human, Pair 17 | Gene Rearrangement | Chromosomes, Artificial, Bacterial | Heterozygote | Mosaicism | Genome, Human | Chromosome Breakage | Complications and side effects | Usage | Genetic disorders | DNA microarrays | DNA damage | Research | Diagnosis | Risk factors | Methods | Neuropsychology | Mental retardation | Genomics | Index Medicus
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3. Full Text A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
by Koolen, D.A and Vissers, L.E.L.M and Pfundt, R and Leeuw, N. de and Knight, S.J and Regan, R and Kooy, R.F and Reyniers, E and Romano, C and Fichera, M and Schinzel, A and Baumer, A and Anderlid, B.M and Schoumans, J and Knoers, N.V.A.M and Geurts van Kessel, A.H.M and Sistermans, E.A and Veltman, J.A and Brunner, H.G and Vries, L.B.A. de
Nature genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 999 - 1001
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Haplotypes | Brain - diagnostic imaging | Prevalence | Humans | Child, Preschool | Receptors, Corticotropin-Releasing Hormone - genetics | Male | Brain - abnormalities | Chromosome Inversion | Intellectual Disability - genetics | tau Proteins - genetics | Adult | Female | Intellectual Disability - epidemiology | Chromosome Deletion | Muscle Hypotonia - genetics | Physical Chromosome Mapping | Face - pathology | Gene Frequency | Intellectual Disability - pathology | Gene Dosage | Syndrome | Polymorphism, Genetic | Radiography | Magnetic Resonance Imaging | Muscle Hypotonia - physiopathology | Chromosomes, Human, Pair 17 | Adolescent | Cohort Studies | Complications and side effects | Gene mutations | Research | Diagnosis | Mental retardation | Health aspects | Risk factors | Genetic polymorphisms | Genetic disorders | Intellectual disabilities | Genomics | Polymorphism | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Risk Factors for Fatal Outcome From Rocky Mountain Spotted Fever in a Highly Endemic Area—Arizona, 2002–2011
by Joanna J. Regan and Marc S. Traeger and Dwight Humpherys and Dianna L. Mahoney and Michelle Martinez and Ginny L. Emerson and Danielle M. Tack and Aimee Geissler and Seema Yasmin and Regina Lawson and Velda Williams and Charlene Hamilton and Craig Levy and Ken Komatsu and David A. Yost and Jennifer H. McQuiston
Clinical infectious diseases, ISSN 1058-4838, 6/2015, Volume 60, Issue 11, pp. 1659 - 1666
ARTICLES AND COMMENTARIES | American Indians | Rocky Mountain spotted fever | Rhipicephalus sanguineus | fatalities | tick-borne | Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Endemic Diseases | Animals | Humans | Female | Male | Rocky Mountain Spotted Fever - pathology | Rocky Mountain Spotted Fever - epidemiology | Care and treatment | Ticks | Doxycycline | Causes of | Dosage and administration | Native Americans | Health aspects | Risk factors | Infectious diseases | Antibiotics | Epidemiology | Medical treatment | Morbidity | Index Medicus
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5. Full Text Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
by Weiner, Daniel J and Wigdor, Emilie M and Ripke, Stephan and Walters, Raymond K and Kosmicki, Jack A and Grove, Jakob and Samocha, Kaitlin E and Goldstein, Jacqueline I and Okbay, Aysu and Bybjerg-Grauholm, Jonas and Werge, Thomas and Hougaard, David M and Taylor, Jacob and Skuse, David and Devlin, Bernie and Anney, Richard and Sanders, Stephan J and Bishop, Somer and Mortensen, Preben Bo and Børglum, Anders D and Smith, George Davey and Daly, Mark J and Robinson, Elise B and Bækvad-Hansen, Marie and Dumont, Ashley and Hansen, Christine and Hansen, Thomas F and Howrigan, Daniel and Mattheisen, Manuel and Moran, Jennifer and Mors, Ole and Nordentoft, Merete and Nørgaard-Pedersen, Bent and Poterba, Timothy and Poulsen, Jesper and Stevens, Christine and Anttila, Verneri and Holmans, Peter and Huang, Hailiang and Klei, Lambertus and Lee, Phil H and Medland, Sarah E and Neale, Benjamin and Weiss, Lauren A and Zwaigenbaum, Lonnie and Yu, Timothy W and Wittemeyer, Kerstin and Willsey, A. Jeremy and Wijsman, Ellen M and Wassink, Thomas H and Psychiat Genomics Consortium and iPSYCH-Broad Autism Grp and iPSYCH-Broad Autism Group and Psychiatric Genomics Consortium Autism Group and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 978 - 985
Genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Sequence Deletion | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Risk Factors | Family Health | Genetics, Behavioral | Male | Educational Status | Intelligence - genetics | Multifactorial Inheritance | Intellectual Disability - genetics | Genetic Variation | Phenotype | Ethnic Groups - genetics | Schizophrenia - genetics | Autism Spectrum Disorder - epidemiology | Adult | Female | Child | Cohort Studies | Family | Genetic aspects | Genetic transformation | Research | Risk factors | Pervasive developmental disorders | Mental disorders | Intellectual disabilities | Disorders | Schizophrenia | Risk | Genomes | Cases (containers) | Subgroups | Educational attainment | Children & youth | Proteins | Studies | Consortia | Autism | Parents & parenting | Etiology | Population | Mutation | Children | Psychiatry | Index Medicus | Life Sciences | Neurons and Cognition | Neurologi | disease | biology | insights | variants | de-novo | Neurology | mutations | general-population | genetic risk | genome-wide association | loci | Medicin och hälsovetenskap
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6. Full Text Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Gilbert, John and Duketis, Eftichia and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bacchelli, Elena and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Almeida, Joana and Wijsman, Ellen M and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Oliveira, Guiomar and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and Coon, Hilary and Battaglia, Agatino and Szatmari, Peter and Sutcliffe, James S and Hallmayer, Joachim and Gill, Michael and Cook, Edwin H and Buxbaum, Joseph D and Devlin, Bernie and Gallagher, Louise and Betancur, Catalina and Scherer, Stephen W and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
American journal of human genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Metabolic Networks and Pathways - genetics | Multigene Family | Child Development Disorders, Pervasive - genetics | Pedigree | Humans | Female | Male | Gene Regulatory Networks | Child | DNA Copy Number Variations | Genetic research | Autism | Genetic code | Genetic aspects | Research | Genetic variation | Proteins | Chromatin | Learning disabilities | Genes | Neurological disorders | Index Medicus | Life Sciences | Genetics | Psykiatri | Psychiatry | Medicin och hälsovetenskap
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7. Full Text Characterization of a recurrent 15q24 microdeletion syndrome
by Sharp, Anew J and Selzer, Rebecca R and Veltman, Joris A and Gimelli, Stefania and Gimelli, Giorgio and Striano, Pasquale and Coppola, Antonietta and Regan, Regina and Price, Sue M and Knoers, Nine V and Eis, Peggy S and Brunner, Han G and Hennekam, Raoul C and Knight, Samantha J. L and de Vries, Bert B. A and Zuffardi, Orsetta and Eichler, Evan E
Human molecular genetics, ISSN 0964-6906, 2007, Volume 16, Issue 5, pp. 567 - 572
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Deletion | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Chromosomes, Human, Pair 15 - genetics | Syndrome | DNA Mutational Analysis | Base Sequence | Adolescent | Adult | Abnormalities, Multiple - genetics | Chromosome Breakage | Index Medicus
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8. Full Text Functional impact of global rare copy number variation in autism spectrum disorders
by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Medical sciences | Child clinical studies | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Signal Transduction | Child Development Disorders, Pervasive - pathology | Humans | Child Development Disorders, Pervasive - physiopathology | DNA Copy Number Variations - genetics | Case-Control Studies | Europe - ethnology | Child Development Disorders, Pervasive - genetics | Social Behavior | Child | Cell Movement | Cytoprotection | Confidence intervals | Autism | Genetics | Genes | Quality control | Reproduction | Disorders | Disabilities | Arrays | Loci | Index Medicus | Genetic Predisposition to Disease | Europe | Gene Dosage | DNA Copy Number Variations | Life Sciences | Child Development Disorders, Pervasive | Pervasive | Child Development Disorders | Ethnology | Physiopathology | Pathology | Psykiatri | Psychiatry
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