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1Academic Journal
المؤلفون: Pagan, Cécile, Benabou, Marion, Leblond, Claire, Cliquet, Freddy, Mathieu, Alexandre, Lemière, Nathalie, Goubran-Botros, Hany, Delorme, Richard, Leboyer, Marion, Callebert, Jacques, Bourgeron, Thomas, Launay, Jean-Marie
المساهمون: Marqueurs cardiovasculaires en situation de stress (MASCOT (UMR_S_942 / U942)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Fondation FondaMental Créteil, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service psychiatrique de l'enfant et de l'adolescent CHU Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Pôle de Psychiatrie Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital H. Mondor - A. Chenevier, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Psychiatrie Translationnelle (Equipe 15), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Réseau de coopération scientifique en santé mentale, Fondation FondaMental Créteil -Fondation FondaMental Créteil, This work was supported by academic institutions (Institut Pasteur, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique – Hôpitaux de Paris, Université de Paris), academic grants: Agence Nationale de la Recherche (ANR) ERANET-Neuron Altruism , the Laboratory of Excellence GENMED (Medical Genomics) grant no. ANR-10-LABX-0013, charity foundations: Bettencourt-Schueller foundation, FondaMental foundation, Conny-Maeva foundation, Cognacq-Jay foundation., ANR-10-LABX-0013,GENMED,Medical Genomics(2010)
المصدر: ISSN: 2158-3188.
مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]
Relation: info:eu-repo/semantics/altIdentifier/pmid/33414449; pasteur-03261120; https://pasteur.hal.science/pasteur-03261120; https://pasteur.hal.science/pasteur-03261120/document; https://pasteur.hal.science/pasteur-03261120/file/s41398-020-01125-5.pdf; PUBMED: 33414449; PUBMEDCENTRAL: PMC7791095
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2Academic Journal
المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), This work was partially funded by the Institut Pasteur, the Bettencourt-Schueller Foundation, the Cognacq-Jay Foundation, the Conny-Maeva Foundation, the ERANET-NEURON ALTRUISM program, the Agence Nationale de la Recherche through grant number ANR-10-LABX-62-IBEID, France-BioImaging infrastructure through grant number ANR-10-INBS-04 and the INCEPTION program through grant number ANR-16-CONV-0005, the Centre National de la Recherche Scientifique, the University Paris Diderot, the BioPsy Labex, and the Foundation for Medical Research (Equipe DEQ20130326488). This study also benefited from the financial support of GIS “Autisme et Troubles du Neuro-Développement”., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010), ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016)
المصدر: ISSN: 1662-5153 ; Frontiers in Behavioral Neuroscience ; https://hal.science/hal-03379187 ; Frontiers in Behavioral Neuroscience, 2021, 15, pp.735920. ⟨10.3389/fnbeh.2021.735920⟩.
مصطلحات موضوعية: mouse, ultrasonic vocalization (USV), social behavior analysis, mouse model, autism, age, sex, Shank3, [SDV.BA]Life Sciences [q-bio]/Animal biology
Relation: hal-03379187; https://hal.science/hal-03379187; https://hal.science/hal-03379187/document; https://hal.science/hal-03379187/file/fnbeh-15-735920.pdf
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3Academic JournalA chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation
المؤلفون: Vitrac, Aline, Pons, Stéphanie, Balkota, Marta, Lemière, Nathalie, Raïs, Célia, Bourgeois, Jean-Pierre, Maskos, Uwe, Bourgeron, Thomas, Cloëz-Tayarani, Isabelle
المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Neurobiologie intégrative des Systèmes cholinergiques / Integrative Neurobiology of Cholinergic Systems (NISC), Institut Pasteur Paris (IP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Collège Doctoral, Sorbonne Université (SU), The authors are thankful to the Clinical Investigation Center of Robert Debré hospital for assistance with patient recruitment and to Dr. Alexandra Benchoua who performed the initial iPSC reprogramming. The French Ministry of Education and the LabEx BioPsy provided the funding for AV’s PhD. Other funding for this study were provided by grants from the French National Research Agency ANR (ANR-13-SAMA-0006, SynDivAutism), the Bettencourt-Schueller Foundation, the Cognacq Jay Foundation, the Fondamental Foundation and the Fondation pour la Recherche Médicale “FRM Equipe 2019”. We gratefully acknowledge the UtechS Photonic Bioimaging (Imagopole), C2RT, Institut Pasteur, supported by the French National Research Agency (France BioImaging, ANR-10-INSB-04, Investments for the future). We also gratefully acknowledge the help of Image Analysis Hub of the Institut Pasteur for this work. NINDS Repository sample numbers corresponding to the sample used in this study is GM04603 (“4603”)., ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010)
المصدر: ISSN: 2045-2322.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
Relation: info:eu-repo/semantics/altIdentifier/pmid/32769989; pasteur-02913616; https://pasteur.hal.science/pasteur-02913616; https://pasteur.hal.science/pasteur-02913616/document; https://pasteur.hal.science/pasteur-02913616/file/s41598-020-70056-4.pdf; PUBMED: 32769989
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4
المؤلفون: Chaste, Pauline, Clement, Nathalie, Mercati, Oriane, Guillaume, Jean-Luc, Delorme, Richard, Goubran-Botros, Hany, Pagan, Cécile, Périvier, Samuel, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Råstam, Maria, Ståhlberg, Ola, Gillberg, Carina, Serrano, Emilie, Lemière, Nathalie, Launay, Jean-Marie, Mouren-Simeoni, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Jockers, Ralf, Thomas, Bourgeron
المصدر: PLoS ONE. 5(7):1-11
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Psykiatri, Medical and Health Sciences, Clinical Medicine, Psychiatry
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5Academic Journal
المؤلفون: Gouder, Laura, Vitrac, Aline, Goubran-Botros, Hany, Danckaert, Anne, Tinevez, Jean-Yves, André-Leroux, Gwenaëlle, Atanasova, Ekaterina, Lemière, Nathalie, Biton, Anne, Leblond, Claire S., Poulet, Aurélie, Boland, Anne, Deleuze, Jean-François, Benchoua, Alexandra, Delorme, Richard, Bourgeron, Thomas, Cloëz-Tayarani, Isabelle
المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité (COMUE) (USPC), Université Paris Diderot - Paris 7 (UPD7), Imagopole (CITECH), Institut Pasteur Paris (IP), Mathématiques et Informatique Appliquées du Génome à l'Environnement Jouy-En-Josas (MaIAGE), Institut National de la Recherche Agronomique (INRA), Université Paris-Saclay, Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Centre d'Etude des Cellules Souches (CECS), Institut des cellules souches pour le traitement et l'étude des maladies monogéniques (I-STEM), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service psychiatrique de l'enfant et de l'adolescent CHU Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, The French Ministry of Education provided the fundings for LG and AV’s PhDs. Other fundings for this study were provided by grants from the French National Research Agency ANR (ANR-13-SAMA-0006, SynDivAutism), the Bettencourt-Schueller Foundation, the Cognacq Jay Foundation, and the Fondamental Foundation. I-Stem is part of the Biotherapies Institute for Rare Diseases (BIRD) supported by the Association Française contre les Myopathies (AFM-, ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013)
المصدر: ISSN: 2045-2322.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
Relation: hal-02010139; https://hal.science/hal-02010139; https://hal.science/hal-02010139/document; https://hal.science/hal-02010139/file/2018_%20Gouder_Scientific%20Reports.pdf; PRODINRA: 402836; WOS: 000455592300015
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6Academic Journal
المؤلفون: Leblond, Claire, Cliquet, Freddy, Carton, Coralie, Huguet, Guillaume, Alexandre, Mathieu, Kergrohen, Thomas, Buratti, Julien, Lemière, Nathalie, Cuisset, Laurence, Bienvenu, Thierry, Boland, Anne, Deleuze, Jean-François, Stora, Tormodur, Biskupstoe, Rannva, Halling, Jónrit, Andorsdóttir, Guðrið, Billstedt, Eva, Gillberg, Christopher, Bourgeron, Thomas
المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Gènes, Synapses et Cognition (CNRS - UMR3571 ), Université Paris Diderot, Sorbonne Paris Cité, Paris, France, Université Paris Diderot - Paris 7 (UPD7), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Service de Génétique et Biologie Moléculaires CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), National Hospital of the Faroe Islands Tórshavn, Faroe Islands, Genetic Biobank of the Faroes Tórshavn, Faroe Islands, Ministry of Health and The Interior Faroe Islands, University of the Faroe Islands, Göteborgs Universitet = University of Gothenburg (GU), Gillberg Neuropsychiatry Centre Göteborg, Sueden, Institute of Neuroscience and Physiology Göteborg -Göteborgs Universitet = University of Gothenburg (GU), University of Glasgow, This work was supported by the Institut Pasteur, Centre National de la Recherche Scientifique, the Assistance Publique—Hôpitaux de Paris, the University Paris Diderot, the Simons Foundation, the Fondation pour la Recherche Médicale DBI20141231310, the European Commission Horizon 2020 COSYN, The human brain project, the European Commission Innovative Medicines Initiative EU-AIMS no. 115300, the Cognacq-Jay foundation, the Bettencourt-Schueller foundation, the Orange foundation, the FondaMental foundation, the Conny-Maeva foundation, and the Agence Nationale de la Recherche (ANR) SynPathy . This research was supported by the Laboratory of Excellence GENMED (Medical Genomics) grant no. ANR-10-LABX-0013, Bio-Psy and by the INCEPTION program ANR-16-CONV-0005, all managed by the ANR part of the Investment for the Future program., We would like to thank all the participants of the epidemiological and genetic cohorts, the “progeny” database, Julien Fumey for his R tutorial (https://bioinfo-fr.net/creer-sa-carte-geographique-avec-r), Fabrice de Chaumont for his help with python and Thomas Rolland for his feedback on the revised manuscript., ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-15-NEUR-0007,SynPathy,Key Determinants of Synaptic Excitation-Inhibition Imbalance in Autism Spectrum Disorders - From Genetic Animal Models to Human Patients(2015)
المصدر: EISSN: 2056-7944 ; npj Genomic Medicine ; https://pasteur.hal.science/pasteur-02562551 ; npj Genomic Medicine, 2019, 4 (1), ⟨10.1038/s41525-018-0075-2⟩
مصطلحات موضوعية: Autism spectrum disorders, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/30675382; pasteur-02562551; https://pasteur.hal.science/pasteur-02562551; https://pasteur.hal.science/pasteur-02562551/document; https://pasteur.hal.science/pasteur-02562551/file/Both%20rare%20and%20common%20genetic%20variants%20contribute%20to%20autism%20in%20the%20Faroe%20Islands.pdf; PUBMED: 30675382; PUBMEDCENTRAL: PMC6341098
الاتاحة: https://pasteur.hal.science/pasteur-02562551
https://pasteur.hal.science/pasteur-02562551/document
https://pasteur.hal.science/pasteur-02562551/file/Both%20rare%20and%20common%20genetic%20variants%20contribute%20to%20autism%20in%20the%20Faroe%20Islands.pdf
https://doi.org/10.1038/s41525-018-0075-2 -
7Academic Journal
المؤلفون: Pagan, Cécile, Goubran-Botros, Hany, Delorme, Richard, Benabou, Marion, Lemière, Nathalie, Murray, Kerren, Amsellem, Frédérique, Callebert, Jacques, Chaste, Pauline, Jamain, Stéphane, Fauchereau, Fabien, Huguet, Guillaume, Maronde, Erik, Leboyer, Marion, Launay, Jean-Marie, Bourgeron, Thomas
المساهمون: Gènes, Synapses et Cognition (CNRS - UMR3571), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie et biologie moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR139, Hospices Civils de Lyon (HCL), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Fondation FondaMental Créteil, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Psychiatrie Translationnelle (Equipe 15), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Réseau de coopération scientifique en santé mentale, Fondation FondaMental Créteil -Fondation FondaMental Créteil, Goethe-Universität Frankfurt am Main, This work was supported by academic institutions (Institut Pasteur, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique – Hôpitaux de Paris, University Paris Diderot), academic grants: ANR (SynDivAutism) and Neuron-ERANET (EUHF-AUTISM), charity foundations: Bettencourt-Schueller foundation, Orange foundation, FondaMental foundation, Conny-Maeva foundation, Cognacq-Jay foundation., We thank the patients and their families, and the controls who accepted to participate in this study. Some tissue used in this research was obtained from Autism BrainNet that is sponsored by the Simons Foundation, and from the Maryland Brain and Tissue Bank. The authors also acknowledge the Autism Tissue Program that was the predecessor to Autism BrainNet. The Clinical Investigation Centers of Robert-Debré and Henri Mondor Hospitals obtained and processed blood samples, the Hematology departments from both hospitals (Dr MF Hurtaud and Pr M Imbert) performed platelet counts, the Anatomopathology department of Lariboisière Hospital (Pr F Gray) performed immunohistochemistry analyses, ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013), ANR-10-NEUR-0003,EUHFAUTISM(2010)
المصدر: ISSN: 2045-2322.
مصطلحات موضوعية: Autism spectrum disorders, Cellular neuroscience, Circadian rhythms and sleep, Neurochemistry, [SCCO]Cognitive science, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health
Relation: info:eu-repo/semantics/altIdentifier/pmid/28522826; PUBMED: 28522826; PUBMEDCENTRAL: PMC5437096
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8Report
المؤلفون: Chaste, Pauline, Clement, Nathalie, Botros, Hany, Goubran, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, Anckarsäter, Henrik, Råstam, Maria, Ståhlberg, Ola, Gillberg, I. Carina, Melke, Jonas, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, Bourgeron, Thomas
المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Göteborgs Universitet = University of Gothenburg (GU), Skane University Hospital Lund, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut fédératif de Recherche Lariboisière (IFR_139), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Fondation FondaMental Créteil, This work was supported by the Institut Pasteur, Université Paris Diderot, INSERM, CNRS, FP6 ENI‐NET, Fondation FondaMental and Fondation pour la Recherche Médicale (‘Equipe FRM’, RJ).
المصدر: https://pasteur.hal.science/pasteur-01967147 ; 2018.
مصطلحات موضوعية: melatonin, ADHD, AA-NAT, genes, ASMT, receptors, [SDV]Life Sciences [q-bio], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
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9Academic Journal
المؤلفون: Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsater, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemiere, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Jarvela, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Francoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas
المساهمون: Department of Medical and Clinical Genetics
مصطلحات موضوعية: COPY-NUMBER VARIATION, SCAFFOLDING PROTEIN SHANK3, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, DE-NOVO MUTATIONS, MENTAL-RETARDATION, POSTSYNAPTIC DENSITY, RECURRENT MICRODELETIONS, 15Q13.3 MICRODELETIONS, PSYCHIATRIC-DISORDERS, Biomedicine
وصف الملف: application/pdf
Relation: Leblond , C S , Heinrich , J , Delorme , R , Proepper , C , Betancur , C , Huguet , G , Konyukh , M , Chaste , P , Ey , E , Rastam , M , Anckarsater , H , Nygren , G , Gillberg , I C , Melke , J , Toro , R , Regnault , B , Fauchereau , F , Mercati , O , Lemiere , N , Skuse , D , Poot , M , Holt , R , Monaco , A P , Jarvela , I , Kantojärvi , K , Vanhala , R , Curran , S , Collier , D A , Bolton , P , Chiocchetti , A , Klauck , S M , Poustka , F , Freitag , C M , Waltes , R , Kopp , M , Duketis , E , Bacchelli , E , Minopoli , F , Ruta , L , Battaglia , A , Mazzone , L , Maestrini , E , Sequeira , A F , Oliveira , B , Vicente , A , Oliveira , G , Pinto , D , Scherer , S W , Zelenika , D , Delepine , M , Lathrop , M , Bonneau , D , Guinchat , V , Devillard , F , Assouline , B , Mouren , M-C , Leboyer , M , Gillberg , C , Boeckers , T M & Bourgeron , T 2012 , ' Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders ' , PLoS Genetics , vol. 8 , no. 2 , pp. e1002521 . https://doi.org/10.1371/journal.pgen.1002521; ORCID: /0000-0002-1770-6187/work/42752818; http://hdl.handle.net/10138/162533; 910e0bb9-0d44-4ae4-8d8b-921e6bea6951; 84859066832; 000300725500037
الاتاحة: http://hdl.handle.net/10138/162533
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10Academic Journal
المؤلفون: Maruani, Anna, Huguet, Guillaume, Beggiato, Anita, Elmaleh, Monique, Toro, Roberto, Leblond, Claire S, Alexandre, Mathieu, Amsellem, Frederique, Lemière, Nathalie, Verloes, Alain, Leboyer, Marion, Gillberg, Christopher, Bourgeron, Thomas, Delorme, Richard
المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Fondation FondaMental Créteil, Groupe Henri Mondor-Albert Chenevier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Göteborgs Universitet = University of Gothenburg (GU), Université Paris Diderot - Paris 7 (UPD7), This work was supported by the Institut Pasteur, University Paris Diderot, CNRS, Fondation Orange, ANR (ANR-08-MNPS-037-01 - SynGen), Neuron-ERANET (EUHF-AUTISM), Fondation FondaMental, Fondation Recherche Médicale, and Fondation Bettencourt-Schueller., We thank the platform for Ressources Biologiques, Groupe Hospitalier Albert-Chenevier-Henri Mondor, APHP, Crident and the Centre d'Investigation Clinique of the Robert Debré Hospital for collecting and processing the biological samples used in this study., Written informed consent was obtained from the participant for publication of their individual details and accompanying images in this manuscript. The consent form is held by the authors' institution and is available for review by the editor-in-Chef., ANR-10-NEUR-0003,EUHFAUTISM(2010), ANR-08-MNPS-0037,SynGen-ASD-LD,Genes synaptiques de l'autisme et du retard mental(2008)
المصدر: ISSN: 1552-4825.
مصطلحات موضوعية: autism, brain, gene, macrocephaly, Jacobsen syndrome, MESH: Adult, MESH: Autism Spectrum Disorder, MESH: Pregnancy, MESH: Brain, MESH: Case-Control Studies, MESH: Chromosome Aberrations, MESH: Chromosomes, Human, Pair 11, MESH: DNA Copy Number Variations, MESH: Female, MESH: GPI-Linked Proteins, MESH: Genetic Predisposition to Disease, MESH: Humans, MESH: Jacobsen Distal 11q Deletion Syndrome, MESH: Magnetic Resonance Imaging, MESH: Male, MESH: Megalencephaly, MESH: Mutation, MESH: Neural Cell Adhesion Molecules, MESH: Polymorphism, Single Nucleotide, [SCCO]Cognitive science, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health
Relation: info:eu-repo/semantics/altIdentifier/pmid/26334118; PUBMED: 26334118
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11
المؤلفون: Leblond, Claire S, Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M, Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Råstam, Maria, Gillberg, I Carina, Rappold, Gudrun A, Holt, Richard, Monaco, Anthony P, Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J, Boeckers, Tobias M, Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W, Rouleau, Guy A, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
المصدر: PLoS Genetics. 10(9)
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Psykiatri, Medical and Health Sciences, Clinical Medicine, Psychiatry
وصف الملف: electronic
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12Academic Journal
المؤلفون: Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas
المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique Evolutive Humaine - Human Evolutionary Genetics, Fondation FondaMental Créteil, Psychiatrie génétique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Mondor de Recherche Biomédicale, Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U901), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gillberg Neuropsychiatry Centre Göteborg, Sueden, Institute of Neuroscience and Physiology Göteborg -Göteborgs Universitet = University of Gothenburg (GU), University College of London London (UCL), This work was funded by the Institut Pasteur, CNRS, INSERM, AP-HP, University Paris Diderot, the Bettencourt-Schueller foundation, the Orange foundation, the FondaMental foundation, the Conny-Maeva foundation, the Cognacq-Jay foundation, the ANR (SynDivAutism), Neuron-ERANET (EUHF-AUTISM).The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013), European Project: 291840,EC:FP7:HEALTH,FP7-ERANET-2011-RTD,ERA-NET NEURON II(2012)
المصدر: ISSN: 1932-6203.
مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/24594579; info:eu-repo/grantAgreement/EC/FP7/291840/EU/Network of European funding for Neuroscience research/ERA-NET NEURON II; hal-01361043; https://hal.sorbonne-universite.fr/hal-01361043; https://hal.sorbonne-universite.fr/hal-01361043/document; https://hal.sorbonne-universite.fr/hal-01361043/file/journal.pone.0088600.PDF; PUBMED: 24594579; PUBMEDCENTRAL: PMC3940422
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13Academic Journal
المؤلفون: Barsh, Gregory S., Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
وصف الملف: text
Relation: http://eprints.gla.ac.uk/206652/1/206652.pdf; Barsh, G. S. et al. (2014) Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genetics , 10(9), e1004580. (doi:10.1371/journal.pgen.1004580 ) (PMID:25188300) (PMCID:PMC4154644)
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14
المؤلفون: Leblond, Claire S, Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, 1966, Nygren, Gudrun, 1957, Gillberg, I Carina, 1949, Melke, Jonas, 1971, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P, Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A, Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M, Poustka, Fritz, Freitag, Christine M, Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F, Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, 1950, Boeckers, Tobias M, Bourgeron, Thomas
المصدر: PLoS Genetics. 8(2)
مصطلحات موضوعية: Psychiatry, Psykiatri, Adaptor Proteins, Signal Transducing, Genetics, Metabolism, Adult, Alternative Splicing, Cell Line, Child, Child Development Disorders, Pervasive, Preschool, Female, Gene Dosage, Gene Expression Regulation, Humans, Male, Nerve Tissue Proteins, Neurons, Cytology, Protein Isoforms, RNA Splice Sites, Receptors, Nicotinic, Sequence Deletion, Synapses, Pathology, Tissue Distribution
وصف الملف: electronic
URL الوصول: https://gup.ub.gu.se/publication/155521
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15
المؤلفون: Konyukh, Marina, Delorme, Richard, Chaste, Pauline, Leblond, Claire, Lemière, Nathalie, Nygren, Gudrun, Anckarsäter, Henrik, Råstam, Maria, Ståhlberg, Ola, Amsellem, Frederique, Gillberg, I Carina, Mouren-Simeoni, Marie Christine, Herbrecht, Evelyn, Fauchereau, Fabien, Toro, Roberto, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas
المصدر: PLoS ONE. 6(3)
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Psykiatri, Medical and Health Sciences, Clinical Medicine, Psychiatry
وصف الملف: electronic
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16
المصدر: Frontiers in Behavioral Neuroscience, (2021-07-02)
مصطلحات موضوعية: mouse, ultrasonic vocalizations, behavior, autism, mouse models, social behavior, Shank3
Relation: https://doi.org/10.5281/zenodo.5060502; https://doi.org/10.5281/zenodo.5060503; oai:zenodo.org:5060503
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17
المؤلفون: Gouder, Laura, Vitrac, Aline, Goubran-Botros, Hany, Danckaert, Anne, Tinevez, Jean-Yves, ANDRE-LEROUX, Gwenaelle, Atanasova, Ekatarina, Lemière, Nathalie, Leblond, Claire S, Poulet, Aurélie, Benchoua, Alexandra, Delorme, Richard, Bourgeron, Thomas, Cloëz-Tayarani, Isabelle
المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Centre National de la Recherche Scientifique (CNRS), Human Genetics and Cognitive Functions, Université Paris Diderot - Paris 7 (UPD7), Imagopole (CITECH), Institut Pasteur [Paris], Mathématiques et Informatique Appliquées du Génome à l'Environnement [Jouy-En-Josas] (MaIAGE), Institut National de la Recherche Agronomique (INRA), CECS - I-STEM, Association française contre les myopathies (AFM-Téléthon), Department of Child and Adolescent Psychiatry, University Hospitals Leuven [Leuven], auto-saisine
المصدر: [University works] auto-saisine. 2017
مصطلحات موضوعية: nervous system, [SDV]Life Sciences [q-bio], mental disorders, behavioral disciplines and activities
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18
المؤلفون: Chaste, Pauline, Clement, Nathalie, Botros, Hany Goubran, Guillaume, Jean-Luc, Konyukh, Marina, Pagan, Cécile, Scheid, Isabelle, Nygren, Gudrun, 1957, Anckarsäter, Henrik, 1966, Råstam, Maria, 1948, Ståhlberg, Ola, Gillberg, I Carina, 1949, Melke, Jonas, 1971, Delorme, Richard, Leblond, Claire, Toro, Roberto, Huguet, Guillaume, Fauchereau, Fabien, Durand, Christelle, Boudarene, Lydia, Serrano, Emilie, Lemière, Nathalie, Launay, Jean Marie, Leboyer, Marion, Jockers, Ralf, Gillberg, Christopher, 1950, Bourgeron, Thomas
المصدر: Journal of Pineal Research. 51(4):394-399
مصطلحات موضوعية: Psychiatry, Psykiatri, Acetylserotonin O-Methyltransferase, Genetics, Arylalkylamine N-Acetyltransferase, Attention Deficit Disorder with Hyperactivity, Female, Genetic Variation, Humans, Male, Melatonin, Nerve Tissue, Proteins, Receptor, MT1, Genetics Receptors, G-Protein-Coupled
URL الوصول: https://gup.ub.gu.se/publication/144120
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19Academic Journal
المؤلفون: Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemiere, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frederique, Rastam, Maria, Gillberg, Carina, Rappold, GudrunA., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurelia, Afenjar, Alexandra, Rastetter, Agnes, Brice, Alexis, Devillard, Francoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, Francois, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
المصدر: eScholarship@McGill: Discover theses, dissertations, articles, and more
Relation: 10670/1.7qxhjr; https://escholarship.mcgill.ca/concern/articles/8c97kv87w
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20Academic Journal
المؤلفون: Botros, Hany Goubran, Legrand, Pierre, Pagan, Cecile, Bondet, Vincent, Weber, Patrick, Ben-Abdallah, Mariem, Lemière, Nathalie, Huguet, Guillaume, Bellalou, Jacques, Maronde, Erik, Beguin, Pierre, Haouz, Ahmed, Shepard, William, Bourgeron, Thomas
المساهمون: Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), Institut Pasteur Paris (IP), Goethe University Frankfurt, This work was supported by the Institut Pasteur, University Paris Diderot, CNRS, Fondation Orange, ANR (ANR-08-MNPS-037-01 – SynGen), Neuron-ERANET (EUHF-AUTISM), Fondation FondaMentale, Fondation Recherche Médicale, the ESRF and Synchrotrons (SOLEIL Proposal 20080516, ESRF at Grenoble)., ANR-08-MNPS-0037,SynGen-ASD-LD,Genes synaptiques de l'autisme et du retard mental(2008), ANR-10-NEUR-0003,EUHFAUTISM(2010)
المصدر: ISSN: 0742-3098.
مصطلحات موضوعية: ASMT, Genetic variants, O‐methyl transferase, crystal structure, melatonin, MESH: Acetylserotonin O-Methyltransferase, MESH: Amino Acid Sequence, MESH: Sequence Alignment, MESH: Asian Continental Ancestry Group, MESH: Crystallography, X-Ray, MESH: Gene Frequency, MESH: Humans, MESH: Melatonin, MESH: Models, Molecular, MESH: Molecular Sequence Data, MESH: Polymorphism, Genetic, [SCCO]Cognitive science, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health
Relation: info:eu-repo/semantics/altIdentifier/pmid/22775292; pasteur-01580140; https://pasteur.hal.science/pasteur-01580140; PUBMED: 22775292