Open Access
| Numéro |
Med Sci (Paris)
Volume 35, Numéro 11, Novembre 2019
|
|
|---|---|---|
| Page(s) | 843 - 851 | |
| Section | M/S Revues | |
| DOI | https://doi.org/10.1051/medsci/2019170 | |
| Publié en ligne | 17 décembre 2019 | |
- Charman T. The new genetics of autism : a translational opportunity? Lancet Psychiatry 2015 ; 10 : 856–7. [Google Scholar]
- Lai MC, Lombardo MV, Baron-Cohen S. Autism. Lancet 2014 ; 383 : 896–910. [CrossRef] [PubMed] [Google Scholar]
- DSM-V. Diagnostic and statistical manual of mental disorders, 5th ed. Washington DC : American Psychiatric Association, 2013. [Google Scholar]
- Leroy C, Jacquemont ML, Doray B. Xq25 duplication : the crucial role of the STAG2 gene in this novel human cohesinopathy. Clin Genet 2016 ; 89 : 68–73. [CrossRef] [PubMed] [Google Scholar]
- Redin C, Gerard B, Lauer J. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet 2014 ; 51 : 724–36. [CrossRef] [PubMed] [Google Scholar]
- Yin J, Schaaf CP. Autism genetics - an overview. Prenat Diagn 2017 ; 37 : 14–30. [Google Scholar]
- Morgan A, Gandin I, Belcaro C. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Mutat Res 2015 ; 781 : 32–6. [CrossRef] [PubMed] [Google Scholar]
- Grozeva D, Carss K, Spasic-Boskovic O. Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability. Hum Mutat 2015 ; 36 : 1197–204. [CrossRef] [PubMed] [Google Scholar]
- Martínez F, Caro-Llopis A, Roselló M. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. J Med Genet 2017 ; 54 : 87–92. [CrossRef] [PubMed] [Google Scholar]
- Boddaert N, Zilbovicius M, Philippe A. MRI findings in 77 children with non-syndromic autistic disorders. PLoS One 2009 ; 4 : e4415. [CrossRef] [PubMed] [Google Scholar]
- Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL. Autism genetics : opportunities and challenges for clinical translation. Nat Rev Genet 2017 ; 18 : 362–76. [CrossRef] [PubMed] [Google Scholar]
- Poisson A, Nicolas A, Cochat P. Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. Orphanet J Rare Dis 2015 ; 10 : 111. [CrossRef] [PubMed] [Google Scholar]
- Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet 2018 ; 392 : 508–20. [CrossRef] [PubMed] [Google Scholar]
- Codina-Solà M, Pérez-Jurado LA, Cusco I, Serra-Juhé C. Provision of genetic services for autism and its impact on Spanish families. J Autism Dev Disord 2017 ; 47 : 2947–56. [Google Scholar]
- Chen LS, Min J, Zhao S, et al. Information needs in genetic testing : A needs assessment survey among Taiwanese parents of children with autism spectrum disorders. Autism 2018 ; Aug 3 : 1362361318778903. doi: 10.1177/1362361318778903. [Google Scholar]
- Munnich A, Demily C, Frugère L, et al. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Molecular. Autism 2019 ; 10 : 33. https://molecularautism.biomedcentral.com/track/pdf/10.1186/s13229-019-0284-2. [Google Scholar]
Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.
Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.
Le chargement des statistiques peut être long.