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European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 8, pp. 1235 - 1243
Intellectual disability (ID), megalencephaly, frontal predominant pachygyria, and seizures, previously called "thin" lissencephaly, are reported to be caused... 
APOPTOSIS | MALFORMATIONS | SALLA DISEASE | GENETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | RAIDD | MUTATIONS | PIDD | ADAPTER PROTEIN | Neuroimaging | Phenotypes | Aggressive behavior | Genetic variability | Lissencephaly | EEG | Cortex | Phenotyping | Environmental factors | Founder effect | Seizures
Journal Article
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, p. 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 | 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
The American Journal of Human Genetics, ISSN 0002-9297, 2002, Volume 71, Issue 4, pp. 777 - 790
Journal Article
Journal Article
Journal Article