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by Leblond, Claire S and Heinrich, Jutta and Delorme, Richard and Proepper, Christian and Betancur, Catalina and Huguet, Guillaume and Konyukh, Marina and Chaste, Pauline and Ey, Elodie and Rastam, Maria and Anckarsäter, Henrik and Nygren, Gudrun and Gillberg, I. Carina and Melke, Jonas and Toro, Roberto and Regnault, Beatrice and Fauchereau, Fabien and Mercati, Oriane and Lemière, Nathalie and Skuse, David and Poot, Martin and Holt, Richard and Monaco, Anthony P and Järvelä, Irma and Kantojärvi, Katri and Vanhala, Raija and Curran, Sarah and Collier, David A and Bolton, Patrick and Chiocchetti, Andreas and Klauck, Sabine M and Poustka, Fritz and Freitag, Christine M and Waltes, Regina and Kopp, Marnie and Duketis, Eftichia and Bacchelli, Elena and Minopoli, Fiorella and Ruta, Liliana and Battaglia, Agatino and Mazzone, Luigi and Maestrini, Elena and Sequeira, Ana F and Oliveira, Barbara and Vicente, Astrid and Oliveira, Guiomar and Pinto, Dalila and Scherer, Stephen W and Zelenika, Diana and Delepine, Marc and Lathrop, Mark and Bonneau, Dominique and Guinchat, Vincent and Devillard, Françoise and Assouline, Brigitte and Mouren, Marie-Christine and Leboyer, Marion and Gillberg, Christopher and Boeckers, Tobias M and Bourgeron, Thomas and Gillberg Neuropsychiatry Centre and Göteborgs universitet and Gothenburg University and Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi and Gillbergcentrum and Sahlgrenska Academy and Sahlgrenska akademin and Institute of Neuroscience and Physiology, Department of Pharmacology
PLoS Genetics, ISSN 1553-7390, 02/2012, Volume 8, Issue 2, pp. e1002521 - e1002521
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in... 
15Q13.3 MICRODELETIONS | SNP GENOTYPING DATA | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HIDDEN-MARKOV MODEL | SCAFFOLDING PROTEIN SHANK3 | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | PSYCHIATRIC-DISORDERS | POSTSYNAPTIC DENSITY | COPY-NUMBER VARIATION | Humans | Child, Preschool | Male | Neurons - cytology | Synapses - genetics | Synapses - pathology | Tissue Distribution | Protein Isoforms - metabolism | Adult | Female | Child | Cell Line | Gene Dosage - genetics | Receptors, Nicotinic - metabolism | RNA Splice Sites - genetics | Alternative Splicing - genetics | Gene Expression Regulation | Nerve Tissue Proteins - genetics | Child Development Disorders, Pervasive - genetics | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Nicotinic - genetics | Protein Isoforms - genetics | Sequence Deletion - genetics | alpha7 Nicotinic Acetylcholine Receptor | Autism | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Prevalence studies (Epidemiology) | Medical research | Genetics | Mutation | Genes | Index Medicus | Sequence Deletion | RNA Splice Sites | Receptors, Nicotinic | Alternative Splicing | Neurons | Nerve Tissue Proteins | Gene Dosage | Life Sciences | Adaptor Proteins, Signal Transducing | Protein Isoforms | Child Development Disorders, Pervasive | Synapses | Pervasive | Cytology | Child Development Disorders | Receptors | Psykiatri | Preschool | Metabolism | Adaptor Proteins | Nicotinic | Pathology | Signal Transducing | Psychiatry
Journal Article
FRONTIERS IN PSYCHIATRY, ISSN 1664-0640, 02/2019, Volume 10, pp. 26 - 26
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 07/2016, Volume 21, Issue 7, pp. 936 - 945
Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and... 
NEURONAL MIGRATION | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | CORTICAL INTERNEURON MIGRATION | PERIRHINAL CORTEX | FRAGILE-X | SPECTRUM DISORDERS | HYPEREKPLEXIA MUTATIONS | NEUROSCIENCES | PREFRONTAL CORTEX | GABA | RECEPTOR ACTIVATION | RECOGNITION MEMORY | Glycine - genetics | Glycine - metabolism | Synaptic Transmission - physiology | Autistic Disorder - metabolism | Humans | Mice, Inbred C57BL | Child, Preschool | Neuronal Plasticity - drug effects | Male | Zebrafish | Animals | Long-Term Potentiation - drug effects | Signal Transduction - drug effects | Autism Spectrum Disorder - metabolism | Adolescent | Adult | Mice | Neurogenesis - drug effects | Neurons - metabolism | Receptors, Glycine - metabolism | Child | Receptors, Glycine - genetics | Autism | Physiology, Pathological | Genetic aspects | Glycine receptors | Analysis | Index Medicus | Life Sciences | Human health and pathology | Genetics | Neurons and Cognition | Psychiatrics and mental health | rare variants | Morris water maze | de novo | prefrontal cortex | functional analysis | X chromosome | α2 subunit | repetitive behaviors | axon branching | whole-cell recording | sequencing | rescue analyses | GLRA2 | glycine receptor | deletion | mutation screening | social interaction | immunohistochemistry | knock-out mice | rotarod | long term potentiation | site-directed mutagenesis | biotinylation | glycinergic signaling | novel object recognition | loss of function | Autism spectrum disorder | excitatory-inhibitory imbalance | mutation | microarray | language delay | learning and memory | electrophysiology | interneuron | locomotor activity | synaptic plasticity | zebrafish | intellectual disability | Psykiatri | Psychiatry
Journal Article
Neuropsychiatrie de l'enfance et de l'adolescence, ISSN 0222-9617, 01/2019, Volume 67, Issue 1, pp. 50 - 57
This longitudinal study examines school achievement in terms of grade failures among deaf children ten years after cochlear implantation according to the... 
Handicap | Cochlear implants | Deaf | Grade failure | Collège | Langage | Longitudinal research | Disability | Retard scolaire | School achievement | Étude longitudinale | Language | Implant cochléaire | Middle school | Hearing impairments | Parole | Speech | Déficit auditif | Réussite scolaire | Sourds
Journal Article
Research in Developmental Disabilities, ISSN 0891-4222, 03/2015, Volume 38, pp. 242 - 255
During adolescence, some individuals with autism spectrum disorder (ASD) engage in severe challenging behaviors, such as aggression, self-injury, disruption,... 
Regression | Autism | Adolescence | Intellectual disability | Acute behavioral state | YOUNG-ADULTS | RISK-FACTORS | INFANTILE-AUTISM | FOLLOW-UP | EDUCATION, SPECIAL | CLINICAL-RELEVANCE | CHILDREN | CHALLENGING BEHAVIORS | REHABILITATION | MALADAPTIVE BEHAVIORS | GLOBAL ASSESSMENT | Child Development Disorders, Pervasive - therapy | Adjustment Disorders - therapy | Catatonia - psychology | Prospective Studies | Pain - epidemiology | Humans | Male | Schizophrenic Psychology | Depressive Disorder, Major - epidemiology | Epilepsy - epidemiology | Young Adult | Hospital Units | Catatonia - therapy | Female | Bipolar Disorder - therapy | Retrospective Studies | Severity of Illness Index | Acute Disease | Child Development Disorders, Pervasive - epidemiology | France - epidemiology | Schizophrenia - therapy | Epilepsy - psychology | Mental Disorders - epidemiology | Comorbidity | Adjustment Disorders - epidemiology | Catatonia - epidemiology | Risk Factors | Depressive Disorder, Major - therapy | Hospitalization | Schizophrenia - epidemiology | Bipolar Disorder - psychology | Adjustment Disorders - psychology | Depressive Disorder, Major - psychology | Mental Disorders - psychology | Pain - psychology | Child Development Disorders, Pervasive - psychology | Adolescent | Bipolar Disorder - epidemiology | Medicine, Experimental | Medical research | Hospital patients | Epilepsy | Index Medicus
Journal Article
Case reports in psychiatry, ISSN 2090-682X, 2017, Volume 2017, pp. 7582780 - 8
We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and... 
Autism | Health aspects | Mediation | Blindness | Dairy products | Pain | Epilepsy | Behavior | Mutation | Age | Child & adolescent psychiatry | Case Report
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 11/2006, Volume 48, Issue 11, pp. 896 - 900
Journal Article
Research in Autism Spectrum Disorders, ISSN 1750-9467, 2012, Volume 6, pp. 589 - 601
This study assessed parents' first concerns about their autistic child. This information was categorized so that it could help healthcare professionals improve... 
Sociology | Humanities and Social Sciences
Journal Article
Journal of the Canadian Academy of Child and Adolescent Psychiatry, ISSN 1719-8429, 05/2010, Volume 19, Issue 2, pp. 100 - 108
During adolescence, some individuals with autism engage in severe disruptive behaviors, such as violence, agitation, tantrums, or self-injurious behaviors. We... 
Regression | Adolescence | Autism | Intellectual disability | Acute behavioral state | acute behavioral state | autisme | régression | regression | déficience intellectuelle | adolescence | trouble sévère du comportement | Original | autism | intellectual disability
Journal Article
Journal Article