M. Abitbol, C. Menini, A. Delezoide, T. Rhyner, M. Vekemans et al., Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain, Nature Genetics, vol.84, issue.2, pp.147-153, 1993.
DOI : 10.1016/0006-8993(87)90470-7

M. Abrams, K. Doheny, M. Mazzocco, S. Knight, T. Baumgardner et al., Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressingFRAXE, American Journal of Medical Genetics, vol.32, issue.1, pp.73-81, 1997.
DOI : 10.1002/(SICI)1096-8628(19970221)74:1<73::AID-AJMG16>3.0.CO;2-O

R. Amir, I. Van-den-veyver, M. Wan, C. Tran, U. Francke et al., Rett syndrome is caused by mutations in X-linked MECP2, encloding methyl-CpG-binding protein 2, Nature Genetics, vol.23, pp.185-188, 1999.

B. Anderlid, J. Schoumans, G. Anneren, I. Tapia-paez, J. Dumanski et al., FISH-mapping of a 100-kb terminal 22q13 deletion, Human Genetics, vol.110, issue.5, pp.439-443, 2002.
DOI : 10.1007/s00439-002-0713-7

A. Junior and F. , Brief report: a case of chromosome 22 alteration associated with autistic syndrome, Journal of Autism and Developmental Disorders, vol.28, pp.253-256, 1998.

A. Bailey, The biology of autism1, Psychological Medicine, vol.18, issue.01, pp.7-11, 1993.
DOI : 10.1037/0033-295X.94.4.412

A. Bailey, L. Couteur, A. Gottesman, I. Bolton, P. Simonoff et al., Autism as a strongly genetic disorder: evidence from a British twin study, Psychological Medicine, vol.134, issue.01, pp.63-77, 1995.
DOI : 10.1111/j.1469-7610.1994.tb01164.x

N. Barnea-goraly, S. Eliez, M. Hedeus, V. Menon, C. White et al., White matter tract alterations in fragile X syndrome: Preliminary evidence from diffusion tensor imaging, American Journal of Medical Genetics, vol.38, issue.1, pp.81-88, 2003.
DOI : 10.1002/ajmg.b.10035

N. Barnea-goraly, V. Menon, B. Krasnow, A. Ko, A. Reiss et al., Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study, American Journal of Psychiatry, vol.160, issue.10, pp.1863-1869, 2003.
DOI : 10.1176/appi.ajp.160.10.1863

Y. Blanchon, C. Gay, G. Gibert, and B. Lauras, A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism, Journal of Autism and Developmental Disorders, vol.32, pp.145-146, 2002.

G. Bock and J. Goode, Autism: Neural Basis and Treatment Possibilities, 2003.
DOI : 10.1002/0470869380

P. Bolton, N. Dennis, C. Browne, N. Thomas, M. Veltman et al., The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders, American Journal of Medical Genetics, vol.5, issue.8, pp.675-685, 2001.
DOI : 10.1002/ajmg.1551

M. Bonaglia, R. Giorda, R. Borgatti, G. Felisari, C. Gagliardi et al., Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome, The American Journal of Human Genetics, vol.69, issue.2, pp.261-268, 2001.
DOI : 10.1086/321293

R. Borgatti, P. Piccinelli, D. Passoni, L. Dalpra, M. Miozzo et al., Relationship between clinical and genetic features in ???inverted duplicated chromosome 15??? patients, Pediatric Neurology, vol.24, issue.2, pp.111-116, 2001.
DOI : 10.1016/S0887-8994(00)00244-7

S. Bryson, B. Clark, and I. Smith, FIRST REPORT OF A CANADIAN EPIDEMIOLOGICAL STUDY OF AUTISTIC SYNDROMES, Journal of Child Psychology and Psychiatry, vol.6, issue.1, pp.433-445, 1988.
DOI : 10.1007/BF01531288

J. Buxbaum, J. Silverman, C. Smith, D. Greenberg, M. Kilifarski et al., Association between a GABRB3 polymorphism and autism, Molecular Psychiatry, vol.7, issue.3, pp.311-316, 2002.
DOI : 10.1038/sj.mp.4001011

J. Buxbaum, J. Silverman, M. Keddache, C. Smith, E. Hollander et al., Linkage analysis for autism in a subset families with obsessive???compulsive behaviors: Evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19, Molecular Psychiatry, vol.9, issue.2, pp.144-150, 2004.
DOI : 10.1038/sj.mp.4001465

M. Campbell, B. Geller, A. Small, T. Petti, and S. Ferris, Minor physical anomalies in young psychotic children, American Journal of Psychiatry, vol.135, pp.573-575, 1978.

R. Carney, C. Wolpert, S. Ravan, M. Shahbazian, A. Ashley-koch et al., Identification of MeCP2 mutations in a series of females with autistic disorder, Pediatric Neurology, vol.28, issue.3, pp.205-211, 2003.
DOI : 10.1016/S0887-8994(02)00624-0

F. Carratala, F. Galan, M. Moya, X. Estivill, M. Pritchard et al., A patient with autistic disorder and a 20/22 chromosomal translocation, Developmental Medicine & Child Neurology, vol.8, issue.126, pp.492-495, 1998.
DOI : 10.1111/j.1469-8749.1998.tb15400.x

S. Chess, Follow-up report on autism in congenital rubella, Journal of Autism and Childhood Schizophrenia, vol.292, issue.1, pp.68-81, 1977.
DOI : 10.1007/BF01531116

B. Chih, S. Afridi, L. Clark, and P. Scheiffele, Disorder-associated mutations lead to functional inactivation of neuroligins, Human Molecular Genetics, vol.13, issue.14, pp.1471-1477, 2004.
DOI : 10.1093/hmg/ddh158

A. Chudley, E. Gutierrez, L. Jocelyn, and B. Chodirker, Outcomes of Genetic Evaluation in Children with Pervasive Developmental Disorder, Journal of Developmental & Behavioral Pediatrics, vol.19, issue.5, pp.321-325, 1998.
DOI : 10.1097/00004703-199810000-00001

D. Chugani, H. Chugani, O. Muzik, J. Shah, A. Shah et al., Imaging epileptogenic tubers in children with tuberous sclerosis complex using?-[11C]Methyl-L-tryptophan positron emission tomography, Annals of Neurology, vol.38, issue.6, pp.858-866, 1998.
DOI : 10.1002/ana.410440603

D. Chugani, B. Sundram, M. Behen, M. Lee, and G. Moore, Evidence of altered energy metabolism in autistic children, Progress in Neuro-Psychopharmacology and Biological Psychiatry, vol.23, issue.4, pp.635-641, 1999.
DOI : 10.1016/S0278-5846(99)00022-6

F. Ciardo, C. Salerno, and P. Curatolo, Neurologic Aspects of Adenylosuccinate Lyase Deficiency, Journal Of Child Neurology, vol.16, issue.05, pp.301-308, 2001.
DOI : 10.2310/7010.2001.17888

M. Coleman, Second trimester of gestation: a time of risk for classical autism?, Developmental Brain Dysfunction, vol.7, pp.104-109, 1994.

M. Coleman and J. Blass, Autism and lactic acidosis, Journal of Autism and Developmental Disorders, vol.3, issue.1, pp.1-8, 1985.
DOI : 10.1007/BF01837894

M. Coleman and C. Gillberg, The Schizophrenias, 1996.

D. Comoletti, D. Jaco, A. Jennings, L. Flynn, R. Gaietta et al., The Arg451Cys-Neuroligin-3 Mutation Associated with Autism Reveals a Defect in Protein Processing, Journal of Neuroscience, vol.24, issue.20, pp.4889-4893, 2004.
DOI : 10.1523/JNEUROSCI.0468-04.2004

E. Cook, . Jr, R. Courchesne, N. Cox, C. Lord et al., Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers, The American Journal of Human Genetics, vol.62, issue.5, pp.1077-1083, 1998.
DOI : 10.1086/301832

E. Cook and . Jr, Genetics of autism. Child and Adolescent Psychiatric Clinics of, North America, vol.10, pp.333-350, 2001.

L. Croen, J. Grether, C. Yoshida, R. Odouli, and J. Van-de-water, Maternal authoimmune diseases, asthma and allergies, and childhood autism spectrum disorders: a case-control study, Arch Pediatratric Adolescence Medicine, vol.159, pp.151-157, 2005.

D. Bona, C. Zappella, M. Hayek, G. Meloni, I. Vitelli et al., Preserved speech variant is allelic of classic Rett syndrome, European Journal of Human Genetics, vol.8, issue.5, pp.325-330, 2000.
DOI : 10.1038/sj.ejhg.5200473

M. Descheemaeker, A. Vogels, V. Govers, M. Borghgraef, D. Willekens et al., Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum, Journal of Intellectual Disability Research, vol.1, issue.1, pp.41-50, 2002.
DOI : 10.1046/j.1365-2788.1998.4260455.x

S. Dimauro and C. Moraes, Mitochondrial Encephalomyopathies, Archives of Neurology, vol.50, issue.11, pp.1197-1208, 1993.
DOI : 10.1001/archneur.1993.00540110075008

J. Down, Observations on the ethnic classification of idiots. Clinical Lectures and Reports by the Medical and Surgical Staff of the London Hospital, pp.259-262, 1866.

I. Eigsti and T. Shapiro, A systems neuroscience approach to autism: Biological, cognitive, and clinical perspectives, Mental Retardation and Developmental Disabilities Research Reviews, vol.30, issue.3, pp.205-215, 2003.
DOI : 10.1002/mrdd.10081

S. Eliez, J. Schmitt, C. White, and A. Reiss, Children and Adolescents With Velocardiofacial Syndrome: A Volumetric MRI Study, American Journal of Psychiatry, vol.157, issue.3, pp.409-415, 2000.
DOI : 10.1176/appi.ajp.157.3.409

S. Eliez, S. Antonarakis, M. Morris, S. Dahoun, and A. Reiss, Parental Origin of the Deletion 22q11.2 and Brain Development in Velocardiofacial Syndrome, Archives of General Psychiatry, vol.58, issue.1, pp.64-68, 2001.
DOI : 10.1001/archpsyc.58.1.64

S. Eliez, C. Blasey, V. Menon, C. White, J. Schmitt et al., Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2), Genetics in Medicine, vol.3, issue.1, pp.49-55, 2001.
DOI : 10.1097/00125817-200101000-00011

S. Eliez, J. Schmitt, C. White, V. Wellis, and R. Al, A quantitative MRI study of posterior fossa development in velocardiofacial syndrome, Biological Psychiatry, vol.49, issue.6, pp.540-546, 2001.
DOI : 10.1016/S0006-3223(00)01005-2

C. Feinstein and A. Reiss, Autism: the point of view from fragile X studies, Journal of Autism and Developmental Disorders, vol.28, issue.5, pp.393-405, 1998.
DOI : 10.1023/A:1026000404855

C. Feinstein, S. Eliez, C. Blasey, and A. Reiss, Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk, Biological Psychiatry, vol.51, issue.4, pp.312-318, 2002.
DOI : 10.1016/S0006-3223(01)01231-8

P. Filipek, J. Juranek, M. Smith, L. Mays, E. Ramos et al., Mitochondrial dysfunction in autistic patients with 15q inverted duplication, Annals of Neurology, vol.52, issue.6, pp.801-804, 2003.
DOI : 10.1002/ana.10596

J. Fillano, M. Goldenthal, C. Rhodes, and J. Marin-garcia, Mitochondrial Dysfunction in Patients With Hypotonia, Epilepsy, Autism, and Developmental Delay: HEADD Syndrome, Journal of Child Neurology, vol.17, issue.6, pp.435-439, 2002.
DOI : 10.1177/088307380201700607

S. Folstein and B. Rosen-sheidley, Genetics of austim: complex aetiology for a heterogeneous disorder, Nature Reviews Genetics, vol.322, issue.12, pp.943-955, 2001.
DOI : 10.1038/35103559

E. Fombonne, D. Mazaubrun, C. Cans, C. Grandjean, and H. , Autism and associated medical disorders in a French epidemiological survey, Journal of the American Academy of Child and Adolescent Psychiatry, vol.36, pp.1561-1569, 1997.

A. Garrett, V. Menon, K. Mackenzie, and A. Reiss, Here's Looking at You, Kid, Archives of General Psychiatry, vol.61, issue.3, pp.281-288, 2004.
DOI : 10.1001/archpsyc.61.3.281

N. Gharani, R. Benayed, V. Mancuso, L. Brzustowicz, and J. Millonig, Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder, Molecular Psychiatry, vol.9, issue.5, pp.474-484, 2004.
DOI : 10.1038/sj.mp.4001498

C. Gillberg and M. Coleman, The Biology of the Autistic Syndromes Epilepsy and electrophysiology; b ? Chapter 9 The Genetics of Autism, Neuropsychology in autism and spectrum disorders. c-Chapter 15, 2000.

C. Gillberg and J. Wahlstrom, CHROMOSOME ABNORMALITIES IN INFANTILE AUTISM AND OTHER CHILDHOOD PSYCHOSES: A POPULATION STUDY OF 66 CASES, Developmental Medicine & Child Neurology, vol.283, issue.3, pp.293-304, 1985.
DOI : 10.1111/j.1469-8749.1985.tb04539.x

C. Gillberg, S. Steffenburg, J. Wahlstrom, I. Gillberg, A. Sjöstedt et al., Case Study: Autism Associated with Marker Chromosome, Journal of the American Academy of Child & Adolescent Psychiatry, vol.30, issue.3, pp.489-494, 1991.
DOI : 10.1097/00004583-199105000-00022

C. Goizet, E. Excoffier, L. Taine, E. Taupiac, E. Moneim et al., Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH, American Journal of Medical Genetics, vol.47, issue.6, pp.839-844, 2000.
DOI : 10.1002/1096-8628(20001204)96:6<839::AID-AJMG29>3.0.CO;2-R

L. Golbe and M. Mouradian, Alpha-synuclein in Parkinson's disease: Light from two new angles, Annals of Neurology, vol.286, issue.2, pp.153-156, 2004.
DOI : 10.1002/ana.20036

W. Graf, J. Marin-garcia, H. Gao, S. Pizzo, R. Naviaux et al., Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation, Journal of Child Neurology, vol.15, issue.6, pp.357-361, 2000.
DOI : 10.1177/088307380001500601

J. Harrison and P. Bolton, Annotation: Tuberous Sclerosis, Journal of Child Psychology and Psychiatry, vol.16, issue.6, pp.603-614, 1997.
DOI : 10.1007/BF02179377

R. Hennekam and P. Barth, Syndromic cortical dysplasias: a review, Barth PG (Ed) Disorders of Neuronal Migration, 2003.

L. Herzing, S. Kim, E. Cook, . Jr, and D. Ledbetter, The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression, The American Journal of Human Genetics, vol.68, issue.6, pp.1501-1505, 2001.
DOI : 10.1086/320616

L. Herzing, E. Cook, . Jr, and D. Ledbetter, Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications, Human Molecular Genetics, vol.11, issue.15, pp.1707-1718, 2002.
DOI : 10.1093/hmg/11.15.1707

A. Humphrey, J. Higgins, J. Yates, and P. Bolton, Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits, Neurology, vol.62, issue.5, pp.795-798, 2004.
DOI : 10.1212/01.WNL.0000113745.58425.EF

S. Ivarsson, I. Bjerre, P. Vegfors, and K. Ahlfors, Autism as One of Several Disabilities in Two Children with Congenital Cytomegalovirus Infection, Neuropediatrics, vol.21, issue.02, pp.102-103, 1990.
DOI : 10.1055/s-2008-1071471

J. Jacobson and M. Janicki, Observed prevalence of multiple developmental disabilities, Mental Retardation, vol.21, pp.87-94, 1983.

J. Jaeken and G. Van-den-berghe, An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids, Lancet, vol.2, pp.1058-1061, 1984.

S. Jamain, H. Quach, C. Betancur, M. Rastam, C. Colineaux et al., Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nature Genetics, vol.34, issue.1, pp.27-29, 2003.
DOI : 10.1038/ng1136

URL : https://hal.archives-ouvertes.fr/inserm-00124744

E. Jenkins, W. Brown, J. Brooks, C. Duncan, R. Rudelli et al., Experience with prenatal fragile X detection, American Journal of Medical Genetics, vol.3, issue.1, pp.215-239, 1984.
DOI : 10.1002/ajmg.1320170114

M. Johnston, Clinical disorders of brain plasticity, Brain and Development, vol.26, issue.2, pp.73-80, 2004.
DOI : 10.1016/S0387-7604(03)00102-5

L. Jorde, S. Hasstedt, E. Ritvo, A. Mason-brothers, B. Freeman et al., Complex segregation analysis of autism, American Journal of Human Genetics, vol.49, pp.932-938, 1991.

F. Kammoun, N. De-roux, O. Boespflug-tanguy, L. Vallee, R. Seng et al., Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases, Journal of Medical Genetics, vol.41, issue.6, p.85, 2004.
DOI : 10.1136/jmg.2003.014480

L. Kanner, Autistic disturbances of affective contact, Nervous Child, vol.2, pp.217-250, 1943.

L. Kanner, Follow-up study of eleven autistic children originally reported in 1943, Journal of Autism and Childhood Schizophrenia, vol.1, issue.2, pp.119-145, 1971.
DOI : 10.1007/BF01537953

M. Kato, S. Das, K. Petras, K. Kitamura, K. Morohashi et al., Mutations ofARX are associated with striking pleiotropy and consistent genotype-phenotype correlation, Human Mutation, vol.108, issue.2, pp.147-159, 2004.
DOI : 10.1002/humu.10310

M. Kielinen, H. Rantala, E. Timonen, S. Linna, and I. Moilanen, Associated Medical Disorders and Disabilities in Children with Autistic Disorder, Autism, vol.8, issue.1, pp.49-60, 2004.
DOI : 10.1177/1362361304040638

M. Konstantareas and S. Homatidis, Chromosomal abnormalities in a series of children with autistic disorder, Journal of Autism and Developmental Disorders, vol.29, issue.4, pp.275-285, 1999.
DOI : 10.1023/A:1022155201662

C. Kozma, On cognitive variability in velocardiofacial syndrome: Profound mental retardation and autism, American Journal of Medical Genetics, vol.28, issue.3, pp.269-270, 1998.
DOI : 10.1002/(SICI)1096-8628(19980508)81:3<269::AID-AJMG12>3.0.CO;2-D

S. Kriaucionis and A. Bird, The major form of MeCP2 has a novel N-terminus generated by alternative splicing, Nucleic Acids Research, vol.32, issue.5, pp.1818-1823, 2004.
DOI : 10.1093/nar/gkh349

H. Kwon, V. Menon, S. Eliez, I. Warsofsky, C. White et al., Functional Neuroanatomy of Visuospatial Working Memory in Fragile X Syndrome: Relation to Behavioral and Molecular Measures, American Journal of Psychiatry, vol.158, issue.7, pp.1040-1051, 2001.
DOI : 10.1176/appi.ajp.158.7.1040

C. Lam, W. Yeung, C. Ko, P. Poon, S. Tong et al., Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome, Journal of Medical Genetics, vol.37, issue.12, p.41, 2000.
DOI : 10.1136/jmg.37.12.e41

A. Laszlo, E. Horvath, E. Eck, and M. Feket, Serum serotonin, lactate and pyruvate levels in infantile autistic children, Clinica Chimica Acta, vol.229, issue.1-2, pp.205-207, 1994.
DOI : 10.1016/0009-8981(94)90243-7

F. Laumonnier, F. Bonnet-brilhault, M. Gomot, R. Blanc, A. David et al., X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family, The American Journal of Human Genetics, vol.74, issue.3, pp.552-557, 2004.
DOI : 10.1086/382137

M. Lauritsen, O. Mors, P. Mortensen, and H. Ewald, Infantile Autism and Associated Autosomal Chromosome Abnormalities: A Register-based Study and a Literature Survey, Journal of Child Psychology and Psychiatry, vol.40, issue.3, pp.335-345, 1999.
DOI : 10.1111/1469-7610.00451

M. Leboyer, Searching for alternative phenotypes in psychiatric genetics Psychiatric Genetics: methods and reviews, 2003.

P. Links, M. Stockwell, F. Abichandani, and S. J. , Minor physical anomalies in childhood autism. Part I. Their relationship to pre- and perinatal complications, Journal of Autism and Developmental Disorders, vol.2, issue.3, pp.273-285, 1980.
DOI : 10.1007/BF02408286

J. Lombard, Autism: a mitochondrial disorder?, Medical Hypotheses, vol.50, issue.6, pp.497-500, 1998.
DOI : 10.1016/S0306-9877(98)90270-5

I. Longo, L. Russo, I. Meloni, I. Ricci, F. Ariani et al., Three Rett patients with both MECP2 mutation and 15q11???13 rearrangements, European Journal of Human Genetics, vol.12, issue.8, pp.682-685, 2004.
DOI : 10.1038/sj.ejhg.5201198

L. Lotspeich, H. Kwon, C. Schumann, S. Fryer, B. Goodlin-jones et al., Investigation of Neuroanatomical Differences Between Autism and AspergerSyndrome, Archives of General Psychiatry, vol.61, issue.3, pp.291-298, 2004.
DOI : 10.1001/archpsyc.61.3.291

J. Maclean, I. Teshima, P. Szatmari, and M. Nowaczyk, Ring chromosome 22 and autism: Report and review, American Journal of Medical Genetics, vol.34, issue.5, pp.382-385, 2000.
DOI : 10.1002/(SICI)1096-8628(20000228)90:5<382::AID-AJMG7>3.0.CO;2-T

M. Menold, Y. Shao, C. Wolpert, S. Donnelly, K. Raiford et al., Receptor Subunit Genes in Autistic Disorder, Journal of Neurogenetics, vol.96, issue.46, pp.245-259, 2001.
DOI : 10.1038/ng0994-52

V. Menon, H. Kwon, S. Eliez, A. Taylor, and A. Reiss, Functional brain activation during cognition is related to FMR1 gene expression, Brain Research, vol.877, issue.2, pp.367-370, 2000.
DOI : 10.1016/S0006-8993(00)02617-2

N. Micali, S. Chakrabarti, and E. Fombonne, The Broad Autism Phenotype, Autism, vol.8, issue.1, pp.21-37, 2004.
DOI : 10.1177/1362361304040636

J. Miles and R. Hillman, Value of a clinical morphology examination in autism, American Journal of Medical Genetics, vol.9, issue.4, pp.245-253, 2000.
DOI : 10.1002/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2

N. Minshew, G. Goldstein, S. Dombrowski, K. Panchalingam, and J. Pettegrew, A preliminary 31P MRS study of autism: Evidence for undersynthesis and increased degradation of brain membranes, Biological Psychiatry, vol.33, issue.11-12, pp.762-773, 1993.
DOI : 10.1016/0006-3223(93)90017-8

N. Minshew, Brief report: Brain mechanisms in autism: Functional and structural abnormalities, Journal of Autism and Developmental Disorders, vol.152, issue.2, pp.205-209, 1996.
DOI : 10.1007/BF02172013

G. Mnatzakanian, H. Lohi, J. Munteanu, S. Alfred, T. Yamada et al., A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome, Nature Genetics, vol.36, issue.4, pp.339-341, 2004.
DOI : 10.1038/ng1327

K. Nelson, J. Grether, L. Croen, J. Dambrosia, B. Dickens et al., Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation, Annals of Neurology, vol.122, issue.5, pp.597-606, 2001.
DOI : 10.1002/ana.1024

R. Nicolson, J. Giedd, M. Lenane, S. Hamburger, S. Singaracharlu et al., Clinical and Neurobiological Correlates of Cytogenetic Abnormalities in Childhood-Onset Schizophrenia, American Journal of Psychiatry, vol.156, issue.10, pp.1575-1579, 1999.
DOI : 10.1176/ajp.156.10.1575

L. Niklasson, P. Rasmussen, S. Oskarsdottir, and C. Gillberg, Neuropsychiatric disorders in the 22q11 deletion syndrome, Genetics in Medicine, vol.42, issue.1, pp.79-84, 2001.
DOI : 10.1097/00125817-200101000-00017

P. Nokelainen and J. Flint, Genetic effects on human cognition: lessons from the study of mental retardation syndromes, Journal of Neurology, Neurosurgery & Psychiatry, vol.72, issue.3, pp.287-296, 2002.
DOI : 10.1136/jnnp.72.3.287

E. Nurmi, Y. Bradford, Y. Chen, J. Hall, B. Arnone et al., Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families, Genomics, vol.77, issue.1-2, pp.105-113, 2001.
DOI : 10.1006/geno.2001.6617

E. Nurmi, M. Dowd, O. Tadevosyan-leyfer, J. Haines, S. Folstein et al., Exploratory Subsetting of Autism Families Based on Savant Skills Improves Evidence of Genetic Linkage to 15q11-q13, Journal of the American Academy of Child & Adolescent Psychiatry, vol.42, issue.7, pp.856-863, 2003.
DOI : 10.1097/01.CHI.0000046868.56865.0F

C. Olanow, Neurodegeneration and prospects for neuroprotection and rescue in Parkinson's disease, Annals of Neurology, vol.3, pp.1-170, 2003.

G. Oliveira, L. Diogo, M. Grazina, P. Garcia, A. Ataide et al., Mitochondrial dysfunction in autism spectrum disorders: Evidence for the association of a mitochondrial respiratory chain functional abnormality with autism, Developmental Medicine and Child Neurology

K. Orstavik, P. Stromme, J. Ek, A. Torvik, and O. Skjeldal, Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?, Journal of Medical Genetics, vol.34, issue.10, pp.849-851, 1997.
DOI : 10.1136/jmg.34.10.849

A. Pickles, P. Bolton, H. Macdonald, A. Bailey, L. Couteur et al., Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: twin and family history of autism, American Journal of Human Genetics, vol.57, pp.717-726, 1995.

R. Pons, A. Andreu, N. Checcarelli, M. Vila, K. Englestad et al., Mitochondrial DNA abnormalities and autistic spectrum disorders, Mitochondrial DNA abnormalities and autistic spectrum disorders, pp.81-85, 2004.
DOI : 10.1016/j.jpeds.2003.10.023

C. Prasad, A. Prasad, B. Chodirker, C. Lee, A. Dawson et al., Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype, Clinical Genetics, vol.54, issue.3, pp.103-109, 2000.
DOI : 10.1034/j.1399-0004.2000.570203.x

A. Reiss, C. Feinstein, and K. Rosenbaum, Autism and Genetic Disorders, Schizophrenia Bulletin, vol.12, issue.4, pp.724-738, 1986.
DOI : 10.1093/schbul/12.4.724

D. Rice, S. Barone, and . Jr, Critical Periods of Vulnerability for the Developing Nervous System: Evidence from Humans and Animal Models, Environmental Health Perspectives, vol.108, issue.s3, pp.511-533, 2000.
DOI : 10.1289/ehp.00108s3511

B. Rimland, Infantile Autism: The Syndrome and its Implication for a Neural Theory of Behavior, 1964.

S. Rineer, B. Finucane, and E. Simon, Autistic symptoms among children and young adults with isodicentric chromosome 15, American Journal of Medical Genetics, vol.50, issue.5, pp.428-433, 1998.
DOI : 10.1002/(SICI)1096-8628(19980907)81:5<428::AID-AJMG12>3.0.CO;2-E

N. Risch, D. Spiker, L. Lotspeich, N. Nouri, D. Hinds et al., A Genomic Screen of Autism: Evidence for a Multilocus Etiology, The American Journal of Human Genetics, vol.65, issue.2, pp.493-507, 1999.
DOI : 10.1086/302497

E. Ritvo, A. Mason-brothers, B. Freeman, C. Pingree, W. Jenson et al., The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases, American Journal of Psychiatry, vol.147, pp.1614-1621, 1990.

P. Rodier, J. Ingram, B. Tisdale, S. Nelson, and J. Romano, Embryological origin for autism: Developmental anomalies of the cranial nerve motor nuclei, The Journal of Comparative Neurology, vol.10, issue.2, pp.247-261, 1996.
DOI : 10.1002/(SICI)1096-9861(19960624)370:2<247::AID-CNE8>3.0.CO;2-2

P. Rodier, S. Bryson, and J. Welch, Minor malformations and physical measurements in autism: Data from Nova Scotia, Teratology, vol.55, issue.5, pp.319-325, 1997.
DOI : 10.1002/(SICI)1096-9926(199705)55:5<319::AID-TERA4>3.3.CO;2-K

P. Rodier, J. Ingram, B. Tisdale, and V. Croog, Linking etiologies in humans and animal models: Studies of autism, Reproductive Toxicology, vol.11, issue.2-3, pp.417-422, 1997.
DOI : 10.1016/S0890-6238(97)80001-U

R. Schain and D. Freedman, Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children, The Journal of Pediatrics, vol.58, issue.3, pp.315-320, 1961.
DOI : 10.1016/S0022-3476(61)80261-8

Y. Shao, M. Cuccaro, E. Hauser, K. Raiford, M. Menold et al., 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.539-548, 2003.
DOI : 10.1086/367846

E. Sherr, The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes, Current Opinion in Pediatrics, vol.15, issue.6, pp.567-571, 2003.
DOI : 10.1097/00008480-200312000-00004

S. Smalley, Autism and tuberous sclerosis, Journal of Autism and Developmental Disorders, vol.39, issue.3, pp.407-414, 1998.
DOI : 10.1007/BF01048239

A. Sporn, A. Addington, A. Reiss, M. Dean, N. Gogtay et al., 22q11 deletion syndrome in childhood onset schizophrenia: an update, Molecular Psychiatry, vol.9, issue.3, pp.225-226, 2004.
DOI : 10.1038/sj.mp.4001477

J. Steg and J. Rapoport, Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children, Journal of Autism and Childhood Schizophrenia, vol.39, issue.4, pp.299-307, 1975.
DOI : 10.1007/BF01540677

P. Stromme, M. Mangelsdorf, I. Scheffer, and J. Gecz, Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX, Brain and Development, vol.24, issue.5, pp.266-268, 2002.
DOI : 10.1016/S0387-7604(02)00079-7

A. Swillen, H. Hellemans, J. Steyaert, and J. Fryns, Autism and genetics: High incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium, American Journal of Medical Genetics, vol.23, issue.3, pp.315-316, 1996.
DOI : 10.1002/(SICI)1096-8628(19960531)67:3<315::AID-AJMG9>3.0.CO;2-L

N. Thomas, A. Sharp, C. Browne, D. Skuse, C. Hardie et al., Xp deletions associated with autism in three females, Human Genetics, vol.104, issue.1, pp.43-48, 1999.
DOI : 10.1007/s004390050908

L. Titomanlio, M. Marzano, E. Rossi, D. Armiento, M. et al., Case of Myhre syndrome with autism and peculiar skin histological findings, American Journal of Medical Genetics, vol.95, issue.2, pp.163-165, 2001.
DOI : 10.1002/ajmg.1517

E. Torrey, S. Hersh, and K. Mccabe, Early childhood psychosis and bleeding during pregnancy, Journal of Autism and Childhood Schizophrenia, vol.3, issue.4, pp.287-297, 1975.
DOI : 10.1007/BF01540676

E. Trevathan and S. Naidu, The Clinical Recognition and Differential Diagnosis of Rett Syndrome, Journal of Child Neurology, vol.29, issue.1, pp.6-16, 1988.
DOI : 10.1007/BF01487267

G. Turner, M. Partington, B. Kerr, M. Mangelsdorf, and J. Gecz, Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identicalARX gene mutation, American Journal of Medical Genetics, vol.30, issue.4, pp.405-411, 2002.
DOI : 10.1002/ajmg.10714

C. Van-karnebeek, I. Van-gelderen, G. Nijhof, N. Abeling, P. Vreken et al., An aetiological study of 25 mentally retarded adults with autism, Journal of Medical Genetics, vol.39, issue.3, pp.205-213, 2002.
DOI : 10.1136/jmg.39.3.205

M. Veltman, R. Thompson, S. Roberts, N. Thomas, J. Whittington et al., Prader-Willi syndrome, European Child & Adolescent Psychiatry, vol.13, issue.1, pp.42-50, 2004.
DOI : 10.1007/s00787-004-0354-6

H. Walker, Incidence of minor physical anomalies in autistic patientsEd) The Autistic Syndromes Amsterdam, 1976.

T. Wassink, J. Piven, and S. Patil, Chromosomal abnormalities in a clinic sample of individuals with autistic disorder, Psychiatric Genetics, vol.11, issue.2, pp.57-63, 2001.
DOI : 10.1097/00041444-200106000-00001

L. Weaving, J. Christodoulou, S. Williamson, K. Friend, O. Mckenzie et al., Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation, The American Journal of Human Genetics, vol.75, issue.6, pp.1079-1093, 2004.
DOI : 10.1086/426462

L. Wing, S. Leekam, S. Libby, J. Gould, and M. Larcombe, The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use, Journal of Child Psychology and Psychiatry, vol.1, issue.3, pp.307-325, 2002.
DOI : 10.1192/bjp.176.4.357

H. Yamagishi, The 22q11.2 deletion syndrome., The Keio Journal of Medicine, vol.51, issue.2, pp.77-88, 2002.
DOI : 10.2302/kjm.51.77

Y. Yamashita, C. Fujimoto, E. Nakajima, T. Isagai, and T. Matsuishi, Possible association between congenital cytomegalovirus infection and autistic disorder, Journal of Autism and Developmental Disorders, vol.33, issue.4, pp.455-459, 2003.
DOI : 10.1023/A:1025023131029

T. Ylisaukko-oja, T. Nieminen-von-wendt, E. Kempas, S. Sarenius, T. Varilo et al., Genome-wide scan for loci of Asperger syndrome, Molecular Psychiatry, vol.9, issue.2, pp.161-168, 2004.
DOI : 10.1038/sj.mp.4001385

M. Zappella, I. Meloni, I. Longo, G. Hayek, and A. Renieri, Preserved speech variants of the Rett syndrome: Molecular and clinical analysis, American Journal of Medical Genetics, vol.28, issue.1, pp.14-22, 2001.
DOI : 10.1002/ajmg.10005

M. Zappella, I. Meloni, I. Longo, R. Canitano, G. Hayek et al., Study of MECP2 gene in Rett syndrome variants and autistic girls, American Journal of Medical Genetics, vol.119, pp.102-107, 2003.

U. Zechner, M. Wilda, H. Kehrer-sawatzki, W. Vogel, R. Fundele et al., A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?, Trends in Genetics, vol.17, issue.12, pp.697-701, 2001.
DOI : 10.1016/S0168-9525(01)02446-5

L. Zwaigenbaum, P. Szatmari, W. Mahoney, S. Bryson, G. Bartolucci et al., High functioning autism and childhood disintegrative disorder in half brothers, Journal of Autism and Developmental Disorders, vol.30, issue.2, pp.121-126, 2000.
DOI : 10.1023/A:1005455505211