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1. 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 Waltes, Regina and Walsh, Christopher A and Wallace, Simon and Vorstman, Jacob A. S and Vieland, Veronica J and Vicente, Astrid M and Van Engeland, Herman and Tsang, Kathryn and Thompson, Ann P and Szatmari, Peter and Svantesson, Oscar and Steinberg, Stacy and Stefansson, Kari and Stefansson, Hreinn and State, Matthew W and Soorya, Latha and Silagadze, Teimuraz and Scherer, Stephen W and Schellenberg, Gerard D and Sandin, Sven and Saemundsen, Evald and Rouleau, Guy A and Rogé, Bernadette and Roeder, Kathryn and Roberts, Wendy and Reichert, Jennifer and Reichenberg, Abraham and Rehnström, Karola and Regan, Regina and Poustka, Fritz and Poultney, Christopher S and Piven, Joseph and Pinto, Dalila and Pericak-Vance, Margaret A and Pejovic-Milovancevic, Milica and Pedersen, Marianne G and Pedersen, Carsten B and Paterson, Andrew D and Parr, Jeremy R and Pagnamenta, Alistair T and Oliveira, Guiomar and Nurnberger, John I and Murtha, Michael T and Mouga, Susana and Morrow, Eric M and DeLuca, Daniel Moreno and Monaco, Anthony P and Minshew, Nancy and Merikangas, Alison and McMahon, William M and ... 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
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to... 
DE-NOVO | VARIANTS | GENETIC RISK | GENETICS & HEREDITY | MUTATIONS | SIMONS SIMPLEX COLLECTION | GENOME-WIDE ASSOCIATION | INSIGHTS | 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 | Genetics & Heredity | de-novo | Neurology | mutations | general-population | genetic risk | genome-wide association | loci
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2. Full Text Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis
by Paternoster, Lavinia and Standl, Marie and Waage, Johannes and Baurecht, Hansjoerg and Hotze, Melanie and Strachan, David P and Curtin, John A and Bonnelykke, Klaus and Tian, Chao and Takahashi, Atsushi and Esparza-Gordillo, Jorge and Alves, Alexessander Couto and Thyssen, Jacob P and den Dekker, Herman T and Ferreira, Manuel A and Altmaier, Elisabeth and Sleiman, Patrick M. A and Xiao, Feng Li and Gonzalez, Juan R and Marenholz, Ingo and Kalb, Birgit and Pino-Yanes, Maria and Xu, Chengjian and Carstensen, Lisbeth and Groen-Blokhuis, Maria M and Venturini, Cristina and Pennell, Craig E and Barton, Sheila J and Levin, Albert M and Curjuric, Ivan and Bustamante, Mariona and Kreiner-Moller, Eskil and Lockett, Gabrielle A and Bacelis, Jonas and Bunyavanich, Supinda and Myers, Rachel A and Matanovic, Anja and Kumar, Ashish and Tung, Joyce Y and Hirota, Tomomitsu and Kubo, Michiaki and McArdle, Wendy L and Henderson, A. John and Kemp, John P and Zheng, Jie and Smith, George Davey and Rueschendorf, Franz and Bauerfeind, Anja and Lee-Kirsch, Min Ae and Arnold, Aneas and Homuth, Georg and Schmidt, Carsten O and Mangold, Elisabeth and Cichon, Sven and Keil, Thomas and Roiguez, Elke and Peters, Annette and Franke, Ane and Lieb, Wolfgang and Novak, Natalija and Foelster-Holst, Regina and Horikoshi, Momoko and Pekkanen, Juha and Sebert, Sylvain and Husemoen, Lise L and Grarup, Niels and De Jongste, Johan C and Rivadeneira, Fernando and Hofman, Albert and Jaddoe, Vincent W. V and Pasmans, Suzanne G. M. A and Elbert, Niels J and Uitterlinden, Ane G and Marks, Guy B and Thompson, Philip J and Matheson, Melanie C and Robertson, Colin F and Ried, Janina S and Li, Jin and Zuo, Xian Bo and Zheng, Xiao Dong and Yin, Xian Yong and Sun, Liang Dan and McAleer, Maeve A and O'Regan, Grainne M and Fahy, Caoimhe M. R and Campbell, Linda E and Macek, Milan and Kurek, Michael and Hu, Donglei and Eng, Celeste and Postma, Dirkje S and Feenstra, Bjarke and Geller, Frank and Hottenga, Jouke Jan and Middeldorp, Christel M and Hysi, Pirro and Bataille, Veronique and Spector, Tim and Tiesler, Carla M. T and ... and AAGC and EArly Genetics Lifecourse Epidemio and Australian Asthma Genetics Consortium (AAGC) and the EArly Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Obstetrics and Gynecology and Sahlgrenska Academy and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för obstetrik och gynekologi
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 47, Issue 12, pp. 1449 - +
Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify... 
CELLS | METAANALYSIS | VARIANTS | FILAGGRIN | DISEASE | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | ASTHMA | SKIN | INTERLEUKIN-7 RECEPTOR | IL-7 | Dermatitis, Atopic - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Risk Factors | Immunity, Innate - genetics | Dermatitis, Atopic - pathology | Genetic Loci | Dermatitis, Atopic - ethnology | Case-Control Studies | Ethnic Groups - genetics | T-Lymphocytes - cytology | T-Lymphocytes - metabolism | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | T-Lymphocytes - immunology | Genome-wide association studies | Immune response | Atopic dermatitis | Development and progression | Genotype | Genetic aspects | Identification and classification | Health aspects | Methods | Studies | Confidence intervals | Inflammatory bowel disease | Genealogy | Disease | Psoriasis | Bias | Eczema | Genomes | Mutation | Dermatitis | Quality of life | Index Medicus | Genètica | Grups ètnics | Dermatitis atòpica | GENETIC ARCHITECTURE | ATES OF AMERICA | Genetics & Heredity | PE1761 | Obstetrics, Gynecology and Reproductive Medicine | INFLAMMATORY-BOWEL-DISEASE | JAPANESE POPULATION | Reproduktionsmedicin och gynekologi | V110 | PSORIASIS
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3. 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 Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A 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, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha 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 Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R 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 ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an... 
INTELLECTUAL DISABILITY | DUPLICATIONS | DE-NOVO MUTATIONS | PHENOTYPE ONTOLOGY | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | RISK | COPY NUMBER VARIANTS | STRUCTURAL VARIATION | DELETIONS | GENOME-WIDE ASSOCIATION | 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
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4. Full Text Analysis of shared heritability in common disorders of the brain
by Anttila, Verneri and Bulik-Sullivan, Brendan and Finucane, Hilary K and Walters, Raymond K and Bras, Jose and Duncan, Laramie and Escott-Price, Valentina and Falcone, Guido J and Gormley, Padhraig and Malik, Rainer and Patsopoulos, Nikolaos A and Ripke, Stephan and Wei, Zhi and Yu, Dongmei and Lee, Phil H and Turley, Patrick and Grenier-Boley, Benjamin and Chouraki, Vincent and Kamatani, Yoichiro and Berr, Claudine and Letenneur, Luc and Hannequin, Didier and Amouyel, Philippe and Boland, Anne and Deleuze, Jean-François and Duron, Emmanuelle and Vardarajan, Badri N and Reitz, Christiane and Goate, Alison M and Huentelman, Matthew J and Ilyas Kamboh, M and Larson, Eric B and Rogaeva, Ekaterina and George-Hyslop, Peter St and Hakonarson, Hakon and Kukull, Walter A and Farrer, Lindsay A and Barnes, Lisa L and Beach, Thomas G and Yesim Demirci, F and Head, Elizabeth and Hulette, Christine M and Jicha, Gregory A and Kauwe, John S.K and Kaye, Jeffrey A and Leverenz, James B and Levey, Allan I and Lieberman, Andrew P and Pankratz, Vernon S and Poon, Wayne W and Quinn, Joseph F and Saykin, Andrew J and Schneider, Lon S and Smith, Amanda G and Sonnen, Joshua A and Stern, Robert A and Van Deerlin, Vivianna M and Van Eldik, Linda J and Harold, Denise and Russo, Giancarlo and Rubinsztein, David C and Bayer, Anthony and Tsolaki, Magda and Proitsi, Petra and Fox, Nick C and Hampel, Harald and Owen, Michael J and Mead, Simon and Passmore, Peter and Morgan, Kevin and Nöthen, Markus M and Rossor, Martin and Lupton, Michelle K and Hoffmann, Per and Kornhuber, Johannes and Lawlor, Brian and McQuillin, Andrew and Al-Chalabi, Ammar and Bis, Joshua C and Ruiz, Agustin and Boada, Mercè and Seshadri, Sudha and Beiser, Alexa and Rice, Kenneth and Van Der Lee, Sven J and De Jager, Philip L and Geschwind, Daniel H and Riemenschneider, Matthias and Riedel-Heller, Steffi and Rotter, Jerome I and Ransmayr, Gerhard and Hyman, Bradley T and Cruchaga, Carlos and Alegret, Montserrat and Winsvold, Bendik and Palta, Priit and Farh, Kai-How and Cuenca-Leon, Ester and Furlotte, Nicholas and Kurth, Tobias and ... and Brainstorm Consortium and The Brainstorm Consortium
Science, ISSN 0036-8075, 06/2018, Volume 360, Issue 6395, pp. 1313 - 1313
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We... 
ANOREXIA-NERVOSA | POPULATION-BASED TWIN | DEFICIT HYPERACTIVITY DISORDER | LONG-TERM SURVIVAL | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | GENETIC CORRELATIONS | BODY-MASS INDEX | MAJOR DEPRESSIVE DISORDER | BIPOLAR DISORDER | GENOME-WIDE ASSOCIATION | Genetic Variation | Mental Disorders - genetics | Genome-Wide Association Study | Phenotype | Brain Diseases - classification | Quantitative Trait, Heritable | Brain Diseases - diagnosis | Humans | Mental Disorders - classification | Risk Factors | Brain Diseases - genetics | Mental Disorders - diagnosis | Anorexia | Disorders | Cognitive ability | Bipolar disorder | Posttraumatic stress disorder | Mental depression | Epidemiology | Risk factors | Consortia | Proteins | Ischemia | Etiology | Classification | Gilles de la Tourette syndrome | Alzheimer's disease | Neurological disorders | Neurodegenerative diseases | Comorbidity | Behavior disorders | Anorexia nervosa | Risk analysis | Patients | Neurological diseases | Correlation analysis | Heritability | Attention deficit disorder | Headache | Mental disorders | Medical services | Schizophrenia | Risk sharing | Genomes | Heterogeneity | Biological effects | Risk assessment | Stroke | Phenotypes | Migraine | Attention deficit hyperactivity disorder | Eating disorders | Personality | Genetic diversity | Statistics | Activity patterns | Crohn's Disease | Population (statistical) | Scaffolding | Diagnostic systems | Alzheimers disease | Index Medicus | Life Sciences | Human health and pathology | Mental Disorders | Neurons and Cognition | Brain Diseases | Genetics
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5. 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 ... 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
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the... 
COMPLEX | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | LOCI | GENETIC DISORDER | MUTATIONS | LINKAGE | ASSOCIATION | ANCESTRY | REVEALS | 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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6. 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
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the... 
MICRODELETION | RECOMBINATION | MENTAL-RETARDATION | SOTOS-SYNDROME | GENETICS & HEREDITY | SEGMENTAL DUPLICATIONS | POLYMORPHISM | REARRANGEMENTS | INVERSION | BREAKPOINTS | MOSAICISM | 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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7. 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
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected... 
MOLECULAR CHARACTERIZATION | HUMAN GENOME | ARRAY-CGH | CHROMOSOME 15Q | GENETICS & HEREDITY | ANGELMAN-SYNDROME | ARCHITECTURE | SEGMENTAL DUPLICATIONS | REARRANGEMENTS | STRUCTURAL VARIATION |