Haploinsufficiency of NSD1 causes Sotos syndrome, Nature Genetics, vol.30, issue.4, pp.365-366, 2002. ,
DOI : 10.1038/ng863
Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators, The EMBO Journal, vol.17, issue.12, pp.3398-3412, 1998. ,
DOI : 10.1093/emboj/17.12.3398
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion, Human Mutation, vol.18, issue.5, pp.378-387, 2003. ,
DOI : 10.1002/humu.10270
Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, The American Journal of Human Genetics, vol.77, issue.2, pp.193-204, 2005. ,
DOI : 10.1086/432082
Autistic disorder in Sotos syndrome: A case report, European Journal of Pediatrics, vol.5, issue.3, pp.567-569, 1990. ,
DOI : 10.1007/BF01957694
Autistic features in children affected by cerebral gigantism, Brain Dysfunct, vol.3, pp.241-244, 1990. ,
Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism, J Am Acad Child Adolesc Psychiatry, vol.30, pp.499-506, 1991. ,
Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations, European Child & Adolescent Psychiatry, vol.11, issue.1, pp.43-48, 2002. ,
DOI : 10.1007/s007870200007
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders, Psychiatric Genetics, vol.14, issue.3, pp.131-137, 2004. ,
DOI : 10.1097/00041444-200409000-00002
Associated Medical Disorders and Disabilities in Children with Autistic Disorder, Autism, vol.8, issue.1, pp.49-60, 2004. ,
DOI : 10.1177/1362361304040638
Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders, Genet Med, vol.8, pp.549-556, 2006. ,
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
Etiologic yield of autistic spectrum disorders: A prospective study, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.3, issue.1, pp.3-7, 2006. ,
DOI : 10.1002/ajmg.c.30076
Pervasive Developmental Disorders in Preschool Children: Confirmation of High Prevalence, American Journal of Psychiatry, vol.162, issue.6, pp.1133-1141, 2005. ,
DOI : 10.1176/appi.ajp.162.6.1133
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
Recent Advances in the Genetics of Autism, Biological Psychiatry, vol.61, issue.4, pp.429-437, 2007. ,
DOI : 10.1016/j.biopsych.2006.06.020
The Biology of the Autistic Syndromes, 2000. ,
Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nat Genet, vol.39, pp.319-328, 2007. ,
Strong Association of De Novo Copy Number Mutations with Autism, Science, vol.316, issue.5823, pp.445-449, 2007. ,
DOI : 10.1126/science.1138659
Microcephaly and macrocephaly in autism, Journal of Autism and Developmental Disorders, vol.29, issue.2, pp.113-119, 1999. ,
DOI : 10.1023/A:1023036509476
Head circumference is an independent clinical finding associated with autism, American Journal of Medical Genetics, vol.3, issue.4, pp.339-350, 2000. ,
DOI : 10.1002/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B
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.463-466, 2001. ,
DOI : 10.1086/321292
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, pp.659-685, 1994. ,
DOI : 10.1007/BF02172145
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
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly, Am J Med Genet B Neuropsychiatr Genet, vol.144, pp.484-491, 2007. ,
URL : https://hal.archives-ouvertes.fr/inserm-00125293
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification, Journal of Medical Genetics, vol.42, issue.9, p.56, 2005. ,
DOI : 10.1136/jmg.2005.031930
NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory, Genetics in Medicine, vol.40, issue.8, pp.1524-533, 2005. ,
DOI : 10.1097/01.GIM.0000178503.15559.d3
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene, Gene, vol.279, issue.2, pp.197-204, 2001. ,
DOI : 10.1016/S0378-1119(01)00750-8
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth, Am J Med Genet A, vol.134, pp.247-253, 2005. ,
alterations in 116 patients with Sotos syndrome, Human Mutation, vol.7, issue.11, pp.1098-107, 2007. ,
DOI : 10.1002/humu.20568
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene, Journal of Medical Genetics, vol.40, issue.1, pp.51-54, 2003. ,
DOI : 10.1136/jmg.40.1.51
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes, European Journal of Human Genetics, vol.11, issue.11, pp.858-865, 2003. ,
DOI : 10.1038/sj.ejhg.5201050
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome, Chin Med J (Engl), vol.118, pp.1499-1506, 2005. ,
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 Gene, Kobe J Med Sci, vol.52, pp.1-8, 2006. ,
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
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome, Journal of Medical Genetics, vol.38, issue.1, pp.52-58, 2001. ,
DOI : 10.1136/jmg.38.1.52
PTEN mutation in a family with Cowden syndrome and autism, American Journal of Medical Genetics, vol.80, issue.6, pp.521-524, 2001. ,
DOI : 10.1002/ajmg.1477
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.318-321, 2005. ,
DOI : 10.1136/jmg.2004.024646
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly, Am J Med Genet A, vol.143, pp.589-593, 2007. ,
Childhood psychosis and neurofibromatosis???more than a coincidence?, Journal of Autism and Developmental Disorders, vol.9, issue.1, pp.1-8, 1984. ,
DOI : 10.1007/BF02408551
Brief report: the association of neurofibromatosis type 1 and autism, Journal of Autism and Developmental Disorders, vol.28, issue.6, pp.567-571, 1998. ,
DOI : 10.1023/A:1026012414193
Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum, PEDIATRICS, vol.114, issue.2, pp.451-457, 2004. ,
DOI : 10.1542/peds.114.2.451
Autosomal dominant macrocephaly: Benign familial macrocephaly or a new syndrome?, American Journal of Medical Genetics, vol.24, issue.1, pp.115-124, 1991. ,
DOI : 10.1002/ajmg.1320410128
Cole-Hughes macrocephaly syndrome and associated autistic manifestations, American Journal of Medical Genetics, vol.350, issue.2, pp.149-152, 2000. ,
DOI : 10.1002/1096-8628(20000911)94:2<149::AID-AJMG7>3.0.CO;2-#
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
Marques-de-Faria AP: On macrocephaly, epilepsy, autism, specific facial features, and mental retardation, Am J Med Genet A, vol.120, pp.564-565, 2003. ,
When Is the Brain Enlarged in Autism? A Meta-Analysis of All Brain Size Reports, Biological Psychiatry, vol.58, issue.1, pp.1-9, 2005. ,
DOI : 10.1016/j.biopsych.2005.03.026
Macrocephaly in Children and Adults With Autism, Journal of the American Academy of Child & Adolescent Psychiatry, vol.36, issue.2, pp.282-290, 1997. ,
DOI : 10.1097/00004583-199702000-00019
A clinicopathological study of autism, Brain, vol.121, issue.5, pp.889-905, 1998. ,
DOI : 10.1093/brain/121.5.889
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes, The American Journal of Human Genetics, vol.72, issue.1, pp.1132-143, 2003. ,
DOI : 10.1086/345647
dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations, Annals of Human Genetics, vol.28, issue.3, pp.222-226, 2005. ,
DOI : 10.1046/j.1469-1809.2004.00150.x