| Title: |
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders |
| Authors: |
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 |
| Contributors: |
Department of Medical and Clinical Genetics |
| Publisher Information: |
Public Library of Science |
| Publication Year: |
2016 |
| Collection: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| Subject Terms: |
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 |
| Description: |
Peer reviewed |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISBN: |
978-84-85906-68-0; 84-85906-68-3 |
| Relation: |
https://hdl.handle.net/10138/162533; 84859066832; 000300725500037 |
| Availability: |
https://hdl.handle.net/10138/162533 |
| Rights: |
cc_by ; info:eu-repo/semantics/openAccess ; openAccess |
| Accession Number: |
edsbas.301283B1 |
| Database: |
BASE |