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Ouvrages de la bibliothèque en indexation SCI-D (370)
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Gene–environment interactions in autism spectrum disorder / Antonio M. PERSICO
Titre : Gene–environment interactions in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Antonio M. PERSICO, Auteur Année de publication : 2013 Importance : p.43-49 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 Gene–environment interactions in autism spectrum disorder [Texte imprimé et/ou numérique] / Antonio M. PERSICO, Auteur . - 2013 . - p.43-49.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Gene expression in autism / Jonathan PEVSNER
Titre : Gene expression in autism Type de document : Texte imprimé et/ou numérique Auteurs : Jonathan PEVSNER, Auteur Année de publication : 2006 Importance : p.207-216 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=792 Gene expression in autism [Texte imprimé et/ou numérique] / Jonathan PEVSNER, Auteur . - 2006 . - p.207-216.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=792 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Genetic Causes of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur Année de publication : 2016 Importance : p.13-24 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders CNV Heritability SNV Synapse Twin studies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Genetic Causes of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Guillaume HUGUET, Auteur ; Thomas BOURGERON, Auteur . - 2016 . - p.13-24.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism spectrum disorders CNV Heritability SNV Synapse Twin studies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In the past 30 years, twin studies have indicated a strong genetic contribution to autism spectrum disorders (ASD). The heritability of ASD is estimated to be 50%. Whereas most of the inherited part of ASD is captured by common variants, our knowledge about the genetics of ASD comes almost exclusively from identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy number or single nucleotide variants affecting clinically relevant genes for ASD. Because of the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. It is hoped that this knowledge will lead to better diagnosis, care, and integration of individuals with ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00002-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development / Yoann SAILLOUR
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development Type de document : Texte imprimé et/ou numérique Auteurs : Yoann SAILLOUR, Auteur ; Jamel CHELLY, Auteur Année de publication : 2016 Importance : p.43-64 Langues : Anglais (eng) Mots-clés : Brain cortex Cortical development Epilepsy Intellectual disability Malformations of cortical development (MCD) Neuronal migration disorders Tubulinopathies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The cerebral cortex has a key role in cognitive and intellectual processes. Its development results from careful orchestrated developmental interactions, most of which are unknown. In recent years, substantial insights have been gained through the rapid evolution of imaging techniques, large-scale genomic sequencing approaches, and the delineation of genes and mutations underlying neurodevelopmental disorders, including malformations of cortical development (MCDs), which are increasingly recognized as causes of intellectual disability conditions and epilepsy. Combined with investigation into cellular and animal models, genetic studies have identified genes, complexes, and pathways that might disrupt each of the main stages of cell proliferation, neuronal migration, and late cortical organization and lead to MCDs. This review summarizes most of the major MCDs from genetic and neurodevelopmental perspectives and highlights how understanding key molecular pathways can also lead to development of strategies aimed at reversing disrupted cellular and biological processes. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00004-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development [Texte imprimé et/ou numérique] / Yoann SAILLOUR, Auteur ; Jamel CHELLY, Auteur . - 2016 . - p.43-64.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Brain cortex Cortical development Epilepsy Intellectual disability Malformations of cortical development (MCD) Neuronal migration disorders Tubulinopathies Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The cerebral cortex has a key role in cognitive and intellectual processes. Its development results from careful orchestrated developmental interactions, most of which are unknown. In recent years, substantial insights have been gained through the rapid evolution of imaging techniques, large-scale genomic sequencing approaches, and the delineation of genes and mutations underlying neurodevelopmental disorders, including malformations of cortical development (MCDs), which are increasingly recognized as causes of intellectual disability conditions and epilepsy. Combined with investigation into cellular and animal models, genetic studies have identified genes, complexes, and pathways that might disrupt each of the main stages of cell proliferation, neuronal migration, and late cortical organization and lead to MCDs. This review summarizes most of the major MCDs from genetic and neurodevelopmental perspectives and highlights how understanding key molecular pathways can also lead to development of strategies aimed at reversing disrupted cellular and biological processes. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00004-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Genetics of X-Linked Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur Année de publication : 2016 Importance : p.25-41 Langues : Anglais (eng) Mots-clés : Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Genetics of X-Linked Intellectual Disability [Texte imprimé et/ou numérique] / Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur . - 2016 . - p.25-41.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Getting from 1,000 Genes to a Triad of Symptoms: The Emerging Role of Systems Biology in Autism Spectrum Disorders / Joseph D. BUXBAUM
PermalinkGlutamic Acid Decarboxylase (GAD) as a Biomarker of GABAergic Activity in Autism: Impact on Cerebellar Circuitry and Function / Gene J. BLATT
PermalinkGuérir grâce à la neuroplasticité / Norman DOIDGE
PermalinkHormonal Influences in Typical Development: Implications for Autism / Bonnie AUYEUNG
PermalinkHow can studies of the monkey brain help us understand "theory of mind" and autism in humans ? / Nathan J. EMERY
PermalinkHow do we Understand Others’ Intentions? An Attentional Investigation / Pines NUKU
PermalinkHow Young Children With Autism Treat Objects and People: Some Insights into Autism in Infancy From Research on Home Movies / Sandra MAESTRO
PermalinkImagerie du cerveau foetal - Apports et indications de l'IRM / M. CASSART
PermalinkImagerie de l'épilepsie de l'enfant / P. DAVID
PermalinkImaging brain connectivity in autism spectrum disorder / Robert COBEN
PermalinkImaging the Brain in Autism / Manuel F. CASANOVA
PermalinkImaging the striatum in autism spectrum disorder / Adriana DI MARTINO
PermalinkImitation in autism spectrum disorders: from research to treatment / Giacomo VIVANTI
PermalinkImmune Abnormalities and Autism Spectrum Disorders / Majannie ELOI AKINTUDE
PermalinkPermalinkImmunological findings in autism / Hari Har Parshad COHLY
PermalinkImplications of social deficits in autism for neurological dysfunction / Deborah A. FEIN
PermalinkInducible Pluripotent Stem Cells In Autism Spectrum Disorders / Alysson Renato MUOTRI
PermalinkInfections cérébrales dans la population pédiatrique / P. DAVID
PermalinkL'infirmité motrice cérébrale: description en quête d'étiologie / Bernard DAN
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