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1. 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 | Life Sciences | Genetics | Psykiatri | Psychiatry
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2. 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
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... 
Genetics | 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 | 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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3. Full Text The reliability and validity of the Social Responsiveness Scale in a UK general child population
by Wigham, Sarah and McConachie, Helen and Tandos, Jonathan and Le Couteur, Ann S and Gateshead Millennium Study Core Te and Gateshead Millennium Study core team
Research in Developmental Disabilities, ISSN 0891-4222, 05/2012, Volume 33, Issue 3, pp. 944 - 950
► We examine the psychometric properties of the SRS in the UK. ► Acceptable reliability and validity and a single factor structure were identified. ► The SRS... 
Social responsiveness scale | Psychometric properties | UK general child population | BEHAVIOR | VALIDATION | DISORDERS | STRENGTHS | EDUCATION, SPECIAL | DIFFICULTIES QUESTIONNAIRE | TWIN | AUTISTIC TRAITS | VERSION | REHABILITATION | SPECTRUM | Validity | Test Norms | United States | Factor Structure | Scores | England | Psychological Testing | United Kingdom | Children | Foreign Countries | Reliability | Construct Validity | Psychometrics - statistics & numerical data | Humans | Child, Preschool | Infant | Male | Reference Values | Mass Screening | Personality Assessment - statistics & numerical data | Social Behavior Disorders - psychology | Child Development Disorders, Pervasive - psychology | Cross-Cultural Comparison | Health Surveys | Child Development Disorders, Pervasive - diagnosis | Female | Social Behavior Disorders - diagnosis | Child | Longitudinal Studies | Infant, Newborn | Cohort Studies
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4. Full Text Systematic review of tools to measure outcomes for young children with autism spectrum disorder
by McConachie, H and Parr, J.R and Glod, M and Hanratty, J and Livingstone, N and Oono, I.P and Robalino, S and Baird, G and Beresford, B and Charman, T and Garland, D and Green, J and Gringras, P and Jones, G and Law, J and Le Couteur, A.S and Macdonald, G and McColl, E.M and Morris, C and Rodgers, J and Simonoff, E and Terwee, C.B and Williams, K
Health technology assessment, ISSN 1366-5278, 2015, Volume 19, Issue 41, pp. 1 - 506
Background: The needs of children with autism spectrum disorder (ASD) are complex and this is reflected in the number and diversity of outcomes assessed and... 
SLEEP HABITS QUESTIONNAIRE | PARENT TRAINING INTERVENTION | JOINT ATTENTION INTERVENTION | TREATMENT EVALUATION CHECKLIST | EARLY TEACHING INTERVENTIONS | SOCIAL COMMUNICATION QUESTIONNAIRE | HEALTH CARE SCIENCES & SERVICES | EMOTIONAL ASSESSMENT ITSEA | RANDOMIZED CONTROLLED-TRIAL | INTENSIVE BEHAVIORAL INTERVENTION | PERVASIVE DEVELOPMENTAL DISORDERS | Outcome Assessment (Health Care) - methods | Reproducibility of Results | Age Factors | Humans | Parents | Autism Spectrum Disorder - therapy | Child, Preschool | Infant | Male | Autism Spectrum Disorder - psychology | Language | Quality of Life | Female | Interviews as Topic | Child Development | Behavior | Child | Interpersonal Relations | Autism Spectrum Disorder - economics
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5. Full Text Do maternal ratings of appetite in infants predict later Child Eating Behaviour Questionnaire scores and body mass index?
by Parkinson, Kathryn N and Drewett, Robert F and Le Couteur, Ann S and Adamson, Ashley J and Gateshead Millennium Study Core T and Gateshead Milennium Study Core Team
Appetite, ISSN 0195-6663, 2010, Volume 54, Issue 1, pp. 186 - 190
In a longitudinal birth cohort maternal ratings of children's appetites made at 6 weeks, 12 months and 5–6 years were correlated with one another and with... 
Appetite | Eating | Body mass index | Hunger | Infancy | Adiposity | Children | Mothers | RISK-FACTORS | RELATE | STYLE | FAILURE-TO-THRIVE | OBESITY | NUTRITION & DIETETICS | FEEDING-BEHAVIOR | BEHAVIORAL SCIENCES | Predictive Value of Tests | Urban Population - statistics & numerical data | Age Factors | Follow-Up Studies | Humans | Child, Preschool | England | Infant | Male | Satiety Response - physiology | Child Nutritional Physiological Phenomena - physiology | Psychometrics - methods | Female | Surveys and Questionnaires | Appetite - physiology | Child | Child Behavior - physiology | Body Mass Index | Infant Behavior - physiology | Psychometrics - statistics & numerical data | Feeding Behavior - physiology | Hunger - physiology | Longitudinal Studies | Cohort Studies | Surveys | Infants
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6. Full Text The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
by Hadley, Dexter and Wu, Zhi-Liang and Kao, Charlly and Kini, Akshata and Mohamed-Hadley, Alisha and Thomas, Kelly and Vazquez, Lyam and Qiu, Haijun and Mentch, Frank and Pellegrino, Renata and Kim, Cecilia and Connolly, John and Glessner, Joseph and Hakonarson, Hakon and Pinto, Dalila and Merikangas, Alison and Klei, Lambertus and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pagnamenta, Alistair T and Oliveira, Bárbara and Magalhaes, Tiago R and Gilbert, John and Duketis, Eftichia and De Jonge, Maretha V and Cuccaro, Michael and Correia, Catarina T and Conroy, Judith and Conceiça, Inês C and Chiocchetti, Andreas G and Casey, Jillian P and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wallace, Simon and Van Engeland, Herman and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jacob, Suma 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 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 Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Erard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Oliveira, Guiomar and Almeida, Joana and Café, Cátia and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M 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 AGP Consortium and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature Communications, ISSN 2041-1723, 06/2014, Volume 5, Issue 1, p. 4074
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities.... 
POSITIVE ASSOCIATIONS | POLYMORPHISMS | DE-NOVO MUTATIONS | VARIANTS | MULTIDISCIPLINARY SCIENCES | COMMON | RISK | DISORDERS | RECURRENCE | COPY NUMBER VARIATION | SUBUNIT GENES | Autistic Disorder - genetics | Calmodulin - genetics | Calmodulin - metabolism | Autistic Disorder - metabolism | Humans | Child, Preschool | Male | Receptors, Metabotropic Glutamate - metabolism | Gene Regulatory Networks | DNA Copy Number Variations | Receptors, Metabotropic Glutamate - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Female | Proto-Oncogene Proteins c-myc - genetics | Child | Life Sciences | Genetics | Neurosciences | Neurovetenskaper
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