Prevalence of Autism in a US Metropolitan Area, JAMA, vol.289, issue.1, pp.49-55, 2003. ,
DOI : 10.1001/jama.289.1.49
CDC: autism spectrum disorders common, JAMA, vol.297, issue.9, p.940, 2007. ,
Autism as a paradigmatic complex genetic disorder. Annual review of genomics and human genetics, pp.379-405, 2004. ,
Disease susceptibility genes for autism. Annals of medicine, pp.274-281, 2003. ,
Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders, Genet Med, vol.8, issue.9, pp.549-556, 2006. ,
Chromosomal Anomalies in Individuals with Autism: A Strategy towards the Identification of Genes Involved in Autism, Autism, vol.8, issue.2, pp.141-161, 2004. ,
DOI : 10.1177/1362361304042719
Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC medical genetics, p.3, 2005. ,
Childhood autism and associated comorbidities, Brain and Development, vol.29, issue.5, pp.257-272, 2007. ,
DOI : 10.1016/j.braindev.2006.09.003
Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome, Journal of Autism and Developmental Disorders, vol.35, issue.3, pp.1634-1641, 2008. ,
DOI : 10.1007/s10803-008-0542-1
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism, Molecular Psychiatry, vol.38, issue.1, p.1, 2006. ,
DOI : 10.1038/sj.mp.4001757
Arraybased comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders, Journal of medical genetics, issue.11, pp.43843-849, 2006. ,
Structural variation of chromosomes in autism spectrum disorder American journal of human genetics, pp.477-488, 2008. ,
Association between Microdeletion and Microduplication at 16p11.2 and Autism, New England Journal of Medicine, vol.358, issue.7, pp.358667-675, 2008. ,
DOI : 10.1056/NEJMoa075974
Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nature Genetics, vol.57, issue.3, pp.319-328, 2007. ,
DOI : 10.1086/503920
URL : https://hal.archives-ouvertes.fr/inserm-00937094
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1??, Journal of Medical Genetics, vol.45, issue.4, pp.239-243, 2008. ,
DOI : 10.1136/jmg.2007.054437
Disruption of neurexin 1 associated with autism spectrum disorder American journal of human genetics, pp.199-207, 2008. ,
Recurrent 16p11.2 microdeletions in autism, Human Molecular Genetics, vol.17, issue.4, pp.628-638, 2008. ,
DOI : 10.1093/hmg/ddm376
MLPA and MAPH: new techniques for detection of gene deletions. Human mutation, pp.413-419, 2004. ,
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. European journal of medical genetics, pp.33-42, 2007. ,
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5 ,
DOI : 10.1007/BF02172145
Diagnosing autism: analyses of data from the Autism Diagnostic Interview, Journal of Autism and Developmental Disorders, vol.27, issue.5, pp.501-517, 1997. ,
DOI : 10.1023/A:1025873925661
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data, Genome Biology, vol.8, issue.2, p.19, 2007. ,
DOI : 10.1186/gb-2007-8-2-r19
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons, European Journal of Human Genetics, vol.10, issue.1, pp.26-35, 2002. ,
DOI : 10.1038/sj.ejhg.5200760
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes . Human molecular genetics, pp.15853-869, 2006. ,
Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome, The American Journal of Human Genetics, vol.76, issue.5, pp.76865-876, 2005. ,
DOI : 10.1086/429841
The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder, Brain and Development, vol.27, issue.5, pp.365-369, 2005. ,
DOI : 10.1016/j.braindev.2004.08.006
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases, Clinical Genetics, vol.73, issue.1, pp.89-93, 2002. ,
DOI : 10.1034/j.1399-0004.2002.620113.x
Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11???13 Region, Journal of Autism and Developmental Disorders, vol.5, issue.Pt 1, pp.694-702, 2007. ,
DOI : 10.1007/s10803-006-0225-8
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication, American journal of human genetics, vol.60, issue.4, pp.928-934, 1997. ,
Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers, The American Journal of Human Genetics, vol.62, issue.5, pp.621077-1083, 1998. ,
DOI : 10.1086/301832
Analysis of linkage disequilibrium in ?-aminobutyric acid receptor subunit genes in autistic disorder, American Journal of Medical Genetics, vol.59, issue.1, pp.43-48, 2000. ,
DOI : 10.1002/(SICI)1096-8628(20000207)96:1<43::AID-AJMG9>3.0.CO;2-3
Association between a GABRB3 polymorphism and autism, Molecular Psychiatry, vol.7, issue.3, pp.311-316, 2002. ,
DOI : 10.1038/sj.mp.4001011
Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes, The American Journal of Human Genetics, vol.72, issue.3, pp.72539-548, 2003. ,
DOI : 10.1086/367846
GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Human molecular genetics, pp.15-26, 2007. ,
Mutation screening and transmission disequilibrium study of ATP10C in autism. American journal of medical genetics, pp.137-143, 2002. ,
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region, Nature Genetics, vol.192, issue.3, pp.357-361, 1997. ,
DOI : 10.1073/pnas.93.15.7811
The human MAGEL2 gene and its mouse homologue Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region, Genet Med, vol.9, issue.7, pp.427-441, 2007. ,
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism, Journal of Medical Genetics, vol.44, issue.2, pp.136-143, 2007. ,
DOI : 10.1136/jmg.2006.044537
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype American journal of human genetics, pp.633-649, 2007. ,
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay, American Journal of Medical Genetics Part A, vol.65, issue.5, pp.146-636, 2008. ,
DOI : 10.1002/ajmg.a.31636
Characterization of Integrin???Tetraspanin Adhesion Complexes, The Journal of Cell Biology, vol.268, issue.2, pp.477-492, 1999. ,
DOI : 10.1083/jcb.141.3.791
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, Nature Genetics, vol.28, issue.2, pp.167-170, 2000. ,
DOI : 10.1038/72829
ITGB3 shows genetic and expression interaction with SLC6A4. Human genetics, pp.93-100, 2006. ,
Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility, European Journal of Human Genetics, vol.11, issue.8, pp.14923-931, 2006. ,
DOI : 10.1038/sj.ejhg.5201644
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment, American Journal of Medical Genetics, vol.24, issue.4, pp.400-404, 2002. ,
DOI : 10.1002/ajmg.10564
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? American journal of medical genetics, pp.413-415, 2004. ,
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58, Journal of Medical Genetics, vol.39, issue.6, pp.430-433, 2002. ,
DOI : 10.1136/jmg.39.6.430
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Human mutation, pp.281034-1042, 2007. ,
Autism spectrum disorder and Klinefelter syndrome. European child & adolescent psychiatry, pp.305-308, 2007. ,
The XYY syndrome: a follow-up study on 38 boys, Genetic counseling, vol.14, issue.3, pp.267-279, 2003. ,
Xp deletions associated with autism in three females, Human Genetics, vol.104, issue.1, pp.43-48, 1999. ,
DOI : 10.1007/s004390050908
Abnormal melatonin synthesis in autism spectrum disorders . Molecular psychiatry, pp.90-98, 2008. ,
URL : https://hal.archives-ouvertes.fr/inserm-00166901
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations, Molecular Psychiatry, vol.21, issue.11, pp.12977-979, 2007. ,
DOI : 10.1038/sj.mp.4002069