M. Bielschowsky and A. Simons, Über diffuse Hamartome (Ganglioneurome) des Kleinhirns und ihre Genese, J Psychol Neurol, vol.41, pp.50-75, 1930.

M. Butler, M. Dasouki, X. Zhou, Z. Talebizadeh, M. Brown et al., Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations, Journal of Medical Genetics, vol.42, issue.4, pp.318-339, 2005.
DOI : 10.1136/jmg.2004.024646

X. Chen, M. Garelick, H. Wang, V. Lil, J. Athos et al., PI3 kinase signaling is required for retrieval and extinction of contextual memory, Nature Neuroscience, vol.16, issue.7, pp.925-956, 2005.
DOI : 10.1038/nn1482

P. Curatolo, M. Porfirio, B. Manzi, and S. Seri, Autism in tuberous sclerosis, European Journal of Paediatric Neurology, vol.8, issue.6, pp.327-359, 2004.
DOI : 10.1016/j.ejpn.2004.08.005

M. Delatycki, A. Danks, A. Churchyard, X. Zhou, and C. Eng, De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones, Journal of Medical Genetics, vol.40, issue.8, p.92, 2003.
DOI : 10.1136/jmg.40.8.e92

H. Dudek, S. Datta, T. Franke, M. Birnbaum, R. Yao et al., Regulation of Neuronal Survival by the Serine-Threonine Protein Kinase Akt, Science, vol.275, issue.5300, pp.661-666, 1997.
DOI : 10.1126/science.275.5300.661

C. Eng, PTEN: One Gene, Many Syndromes, Human Mutation, vol.80, issue.3, pp.183-98, 2003.
DOI : 10.1002/humu.10257

I. Ethell and E. Pasquale, Molecular mechanisms of dendritic spine development and remodeling, Progress in Neurobiology, vol.75, issue.3, pp.161-205, 2005.
DOI : 10.1016/j.pneurobio.2005.02.003

J. Fiala, J. Spacek, and K. Harris, Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?, Brain Research Reviews, vol.39, issue.1, pp.29-54, 2002.
DOI : 10.1016/S0165-0173(02)00158-3

E. Fombonne, B. Roge, J. Claverie, S. Courty, and J. Fremolle, Microcephaly and macrocephaly in autism, Journal of Autism and Developmental Disorders, vol.29, issue.2, pp.113-122, 1999.
DOI : 10.1023/A:1023036509476

M. Georgescu, K. Kirsch, P. Kaloudis, H. Yang, N. Pavletich et al., Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor, Cancer Res, vol.60, pp.7033-7041, 2000.

D. Geschwind, J. Sowinski, C. Lord, P. Iversen, J. Shestack et al., The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions, The American Journal of Human Genetics, vol.69, issue.2, pp.463-469, 2001.
DOI : 10.1086/321292

C. Gillberg, C. Gillberg, M. Rastam, and E. Wentz, The Asperger Syndrome (and High-Functioning Autism) Diagnostic Interview (ASDI): A Preliminary Study of a New Structured Clinical Interview, Autism, vol.11, issue.1, pp.57-66, 2001.
DOI : 10.1177/1362361301005001006

A. Goffin, L. Hoefsloot, E. Bosgoed, A. Swillen, and J. Fryns, PTEN mutation in a family with Cowden syndrome and autism, American Journal of Medical Genetics, vol.80, issue.6, pp.521-525, 2001.
DOI : 10.1002/ajmg.1477

J. Gu, M. Tamura, R. Pankov, E. Danen, T. Takino et al., Shc and Fak Differentially Regulate Cell Motility and Directionality Modulated by Pten, The Journal of Cell Biology, vol.269, issue.2, pp.389-403, 1999.
DOI : 10.1002/cm.970250402

R. Hagerman, Lessons from Fragile X Regarding Neurobiology, Autism, and Neurodegeneration, Journal of Developmental & Behavioral Pediatrics, vol.27, issue.1, 2006.
DOI : 10.1097/00004703-200602000-00012

S. Han, H. Kato, S. Kato, T. Suzuki, H. Shibata et al., Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay, Cancer Res, vol.60, pp.3147-51, 2000.

Y. Hendriks, J. Verhallen, J. Van-der-smagt, S. Kant, Y. Hilhorst et al., Bannayan-Riley- Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutationpositive cases, Familial Cancer, vol.2, issue.2, pp.79-85, 2003.
DOI : 10.1023/A:1025713815924

J. Jaworski, S. Spangler, D. Seeburg, C. Hoogenraad, and M. Sheng, Control of Dendritic Arborization by the Phosphoinositide-3'-Kinase-Akt-Mammalian Target of Rapamycin Pathway, Journal of Neuroscience, vol.25, issue.49, pp.11300-11312, 2005.
DOI : 10.1523/JNEUROSCI.2270-05.2005

C. Kwon, B. Luikart, C. Powell, J. Zhou, S. Matheny et al., Pten Regulates Neuronal Arborization and Social Interaction in Mice, Neuron, vol.50, issue.3, pp.377-88, 2006.
DOI : 10.1016/j.neuron.2006.03.023

J. Lainhart, J. Piven, M. Wzorek, R. Landa, S. Santangelo et al., Macrocephaly in Children and Adults With Autism, Journal of the American Academy of Child & Adolescent Psychiatry, vol.36, issue.2, pp.282-90, 1997.
DOI : 10.1097/00004583-199702000-00019

J. Lee, H. Yang, M. Georgescu, D. Cristofano, A. Maehama et al., Crystal Structure of the PTEN Tumor Suppressor, Cell, vol.99, issue.3, pp.323-357, 1999.
DOI : 10.1016/S0092-8674(00)81663-3

C. Lin, S. Yeh, C. Lin, K. Lu, T. Leu et al., A Role for the PI-3 Kinase Signaling Pathway in Fear Conditioning and Synaptic Plasticity in the Amygdala, Neuron, vol.31, issue.5, pp.841-51, 2001.
DOI : 10.1016/S0896-6273(01)00433-0

C. Lord, M. Rutter, L. Couteur, and A. , 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, 1994.
DOI : 10.1007/BF02172145

M. Manning, S. Cassidy, C. Clericuzio, A. Cherry, S. Schwartz et al., Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum, PEDIATRICS, vol.114, issue.2, pp.451-458, 2004.
DOI : 10.1542/peds.114.2.451

D. Marsh, J. Kum, K. Lunetta, M. Bennett, R. Gorlin et al., PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome, Human Molecular Genetics, vol.8, issue.8, pp.1461-72, 1999.
DOI : 10.1093/hmg/8.8.1461

J. Miles, L. Hadden, T. Takahashi, and R. Hillman, Head circumference is an independent clinical finding associated with autism, American Journal of Medical Genetics, vol.3, issue.4, pp.339-50, 2000.
DOI : 10.1002/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B

J. Morrow, B. Whitman, and P. Accardo, Autistic disorder in Sotos syndrome: A case report, European Journal of Pediatrics, vol.5, issue.3, pp.567-576, 1990.
DOI : 10.1007/BF01957694

C. Steiner, M. Guerreiro, and A. Marques-de-faria, On macrocephaly, epilepsy, autism, specific facial features, and mental retardation, American Journal of Medical Genetics, vol.34, issue.4, pp.564-569, 2003.
DOI : 10.1002/ajmg.a.20032

R. Stevenson, R. Schroer, C. Skinner, D. Fender, and R. Simensen, Autism and macrocephaly, The Lancet, vol.349, issue.9067, pp.1744-1749, 1997.
DOI : 10.1016/S0140-6736(05)62956-X

M. Tamura, J. Gu, K. Matsumoto, S. Aota, R. Parsons et al., Inhibition of Cell Migration, Spreading, and Focal Adhesions by Tumor Suppressor PTEN, Science, vol.280, issue.5369, pp.1614-1621, 1998.
DOI : 10.1126/science.280.5369.1614

J. Veenstra-vanderweele, S. Christian, E. Cook, and J. , AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER, Annual Review of Genomics and Human Genetics, vol.5, issue.1, pp.379-405, 2004.
DOI : 10.1146/annurev.genom.5.061903.180050

K. Waite and C. Eng, Protean PTEN: Form and Function, The American Journal of Human Genetics, vol.70, issue.4, pp.829-873, 2002.
DOI : 10.1086/340026

D. Weaver and J. Christian, Familial variation of head size and adjustment for parental head circumference, The Journal of Pediatrics, vol.96, issue.6, pp.990-994, 1980.
DOI : 10.1016/S0022-3476(80)80623-8

P. Williams and J. Hersh, Brief report: the association of neurofibromatosis type 1 and autism, Journal of Autism and Developmental Disorders, vol.28, issue.6, pp.567-71, 1998.
DOI : 10.1023/A:1026012414193

M. Zappella, Autistic features in children affected by cerebral gigantism, Brain Dysfunct, vol.3, pp.241-285, 1990.

K. Zbuk, J. Stein, and C. Eng, PTEN hamartoma tumor syndrome (PHTS): Gene Reviews, 2006.

X. Zhou, K. Waite, R. Pilarski, H. Hampel, M. Fernandez et al., Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway, The American Journal of Human Genetics, vol.73, issue.2, pp.404-415, 2003.
DOI : 10.1086/377109

R. Zori, D. Marsh, G. Graham, E. Marliss, and C. Eng, Germline PTEN mutation in a family with Cowden syndrome and Bannayan???Riley???Ruvalcaba Syndrome, American Journal of Medical Genetics, vol.80, issue.4, pp.399-402, 1998.
DOI : 10.1002/(SICI)1096-8628(19981204)80:4<399::AID-AJMG18>3.3.CO;2-F