Social phenotypes in genetic syndromes: Journal of Intellectual Disability Research

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Social phenotypes in genetic syndromes : Journal of Intellectual Disability Research. / Swillen, A.; de Ravel, T.; Oliver, C.

In: Journal of Intellectual Disability Research, Vol. 56, No. 10, 2012, p. 919-921.

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@article{859d44c69ff744e99220492d0f705849,
title = "Social phenotypes in genetic syndromes: Journal of Intellectual Disability Research",
keywords = "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",
author = "A. Swillen and {de Ravel}, T. and C. Oliver",
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",
year = "2012",
doi = "10.1111/j.1365-2788.2012.01620.x",
language = "English",
volume = "56",
pages = "919--921",
journal = "Journal of Intellectual Disability Research",
issn = "0964-2633",
publisher = "Wiley",
number = "10",

}

RIS

TY - JOUR

T1 - Social phenotypes in genetic syndromes

T2 - Journal of Intellectual Disability Research

AU - Swillen, A.

AU - de Ravel, T.

AU - Oliver, C.

N1 - 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

PY - 2012

Y1 - 2012

KW - mammalian target of rapamycin

KW - phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase

KW - Asperger syndrome

KW - autism

KW - cognition

KW - copy number variation

KW - editorial

KW - fragile X syndrome

KW - genetic disorder

KW - hippocampus

KW - human

KW - hyperphagia

KW - Lesch Nyhan syndrome

KW - molecularly targeted therapy

KW - mutation

KW - neurofibromatosis

KW - neuroimaging

KW - neuropsychological test

KW - nonhuman

KW - phenotype

KW - Prader Willi syndrome

KW - skill

KW - stereotypy

KW - tuberous sclerosis

KW - Williams Beuren syndrome

KW - Genetic Predisposition to Disease

KW - Humans

KW - Intellectual Disability

KW - Phenotype

KW - Social Behavior

KW - Syndrome

U2 - 10.1111/j.1365-2788.2012.01620.x

DO - 10.1111/j.1365-2788.2012.01620.x

M3 - Editorial

VL - 56

SP - 919

EP - 921

JO - Journal of Intellectual Disability Research

JF - Journal of Intellectual Disability Research

SN - 0964-2633

IS - 10

ER -