Social phenotypes in genetic syndromes: Journal of Intellectual Disability Research

A. Swillen, T. de Ravel, C. Oliver

Research output: Contribution to journalEditorial

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

Bibliographical note

Export Date: 23 March 2015


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


  • 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

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