Social phenotypes in genetic syndromes: Journal of Intellectual Disability Research

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Bibliographic note

Export Date: 23 March 2015 CODEN: JIDRE Correspondence Address: Swillen, A.; Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium Chemicals/CAS: phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase, 210488-47-4 References: Acosta, M.T., Bearden, C.E., Castellanos, X.F., Cutting, L., Elgersma, Y., Gioia, G., The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research (2012) American Journal of Medical Genetics. Part A, , 2012 Jul 20. doi: 10.1002/ajmg.a.35535 [Epub ahead of print]; Bourgeron, T., A synaptic trek to autism (2009) Current Opinion in Neurobiology, 19, pp. 231-234; Ehninger, D., Han, S., Shilyansky, C., Zhou, Y., Li, W., Kwiatkowski, D.J., Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis (2008) Nature Medicine, 14, pp. 843-848; Ehninger, D., de Vries, P.J., Silva, A.J., From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis (2009) Journal of Intellectual Disability Research, 53, pp. 838-851; Ess, K.C., Tuberous sclerosis complex: a brave new world? (2010) Current Opinion in Neurology, 23, pp. 189-193; Feinstein, C., Singh, S., Social phenotypes in neurogenetic syndromes (2007) Child and Adolescent Psychiatric Clinics of North America, 16, pp. 631-647; Harris, J., Advances in understanding behavioural phenotypes (2010) American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 154 C, pp. 389-399; Kelleher III, R.J., Bear, M.F., The autistic neuron: troubled translation? (2008) Cell, 135, pp. 401-406; Merla, G., Brunetti-Pierri, N., Micale, L., Fusco, C., Copy number variants at Williams-Beuren syndrome 7q11.23 region (2010) Human Genetics, 28, pp. 3-26; Napolioni, V., Moavero, R., Curatolo, P., Recent advances in neurobiology of Tuberous Sclerosis Complex (2009) Brain and Development, 31, pp. 104-113; Pober, B.R., Williams-Beuren syndrome (2010) New England Journal of Medicine, 362, pp. 239-252; Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., Key role for gene dosage and synaptic homeostasis in autism spectrum disorders (2010) Trends in Genetics, 26, pp. 363-372; de Vries, P.J., Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex (2010) Neurotherapeutics, 7, pp. 275-282


Original languageEnglish
Pages (from-to)919-921
Number of pages3
JournalJournal of Intellectual Disability Research
Issue number10
Publication statusPublished - 2012


  • mammalian target of rapamycin, phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase, Asperger syndrome, autism, cognition, copy number variation, editorial, fragile X syndrome, genetic disorder, hippocampus, human, hyperphagia, Lesch Nyhan syndrome, molecularly targeted therapy, mutation, neurofibromatosis, neuroimaging, neuropsychological test, nonhuman, phenotype, Prader Willi syndrome, skill, stereotypy, tuberous sclerosis, Williams Beuren syndrome, Genetic Predisposition to Disease, Humans, Intellectual Disability, Phenotype, Social Behavior, Syndrome