Pathogenetics of the RASopathies, Hum Mol Genet. 12 juill, p.191, 2016. ,
The RASopathies as an example of RAS/MAPK pathway disturbances-clinical presentation and molecular pathogenesis of selected syndromes, Dev Period Med. sept, vol.18, issue.3, pp.285-96, 2014. ,
Cardio-FacioCutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines, Pediatrics. oct, vol.134, issue.4, pp.1149-62, 2014. ,
, éditeurs. GeneReviews
Costello syndrome and neurological abnormalities, Am J Med Genet A. 15 déc, vol.123, issue.3, pp.301-306, 2003. ,
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey, Am J Med Genet A. mai, vol.158, issue.5, pp.1083-94, 2012. ,
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature, Am J Med Genet A. 15 avr, vol.134, issue.2, pp.165-70, 2005. ,
Personality Trait Descriptors: Normative Operating Characteristics for a University Population, vol.328, 1967. ,
Trait-names: A psycho-lexical study, Psychol Monogr, vol.47, issue.1, 1936. ,
Personality Structure and the New Fifth Edition of the 16PF, Educ Psychol Meas. 1 déc, vol.55, issue.6, pp.926-963, 1995. ,
The Scientific Study of Personality, Br J Stat Psychol. 1 mai, vol.6, issue.1, pp.44-52, 1953. ,
A short questionnaire for the measurement of two dimensions of personality, J Appl Psychol, vol.42, issue.1, pp.14-21, 1958. ,
The assessment of personality factors across 25 countries, Personal Individ Differ. 1 janv, vol.5, issue.6, pp.615-647, 1984. ,
An alternative « description of personality »: The Big-Five factor structure, J Pers Soc Psychol, vol.59, issue.6, pp.1216-1245, 1990. ,
, Emergence of the Five-Factor Model, vol.41, pp.417-457, 1990.
An introduction to the five-factor model and its applications, J Pers. juin, vol.60, issue.2, pp.175-215, 1992. ,
The Five-factor Personality Inventory as a measure of the Five-factor Model: Belgian, American, and Hungarian comparisons with the NEO-PI-R, Assessment. sept, vol.11, issue.3, pp.207-222, 2004. ,
Introduction to Personality: Toward an Integrative Science of the Person, vol.602, 2008. ,
Personality Processes: Mechanisms by which Personality Traits « Get Outside the Skin, Annu Rev Psychol. 10 janv, vol.63, pp.315-354, 2012. ,
, Personality Development: Continuity and Change Over the Life Course, Annu Rev Psychol, vol.61, issue.1, pp.517-559, 2010.
Heritability of personality: A meta-analysis of behavior genetic studies, Psychol Bull. juill, vol.141, issue.4, pp.769-85, 2015. ,
Heritability of the Big Five Personality Dimensions and Their Facets: A Twin Study, J Pers. 1 sept, vol.64, issue.3, pp.577-92, 1996. ,
Atypical cognitive deficits in developmental disorders: Implications for brain function, pp.23-56, 1994. ,
Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome, Dev Neuropsychol, vol.23, issue.1-2, pp.269-90, 2003. ,
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome, Am J Med Genet A. janv, vol.161, issue.1, pp.21-27, 2013. ,
Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype, J Child Psychol Psychiatry, vol.46, issue.10, pp.1089-96, 2005. ,
Family Contexts, Parental Behaviour, and Personality Profiles of Children and Adolescents with Prader-Willi, Fragile-X, or Williams Syndrome, J Child Psychol Psychiatry. 1 juill, vol.39, issue.5, pp.699-710, 1998. ,
The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome, Am J Med Genet C Semin Med Genet. juin, vol.169, issue.2, pp.182-189, 2015. ,
Mutational Mechanisms of WilliamsBeuren Syndrome Deletions, Am J Hum Genet. juill, vol.73, issue.1, pp.131-51, 2003. ,
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome, Nat Genet. 29 avr, vol.44, issue.6, pp.639-680, 2012. ,
15q Duplication Syndrome and Related Disorders ,
Genome-wide association scan for five major dimensions of personality, Mol Psychiatry. juin, vol.15, issue.6, pp.647-56, 2010. ,
Meta-analysis of genome-wide association studies for personality, Mol Psychiatry. mars, vol.17, issue.3, pp.337-386, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00601880
Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders, Nat Genet. janv, vol.49, issue.1, pp.152-158, 2017. ,
Pathway analysis of genome-wide association datasets of personality traits, Genes Brain Behav. 1 avr, vol.14, issue.4, pp.345-56, 2015. ,
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade, Am J Med Genet A. 1 févr, vol.149, issue.2, pp.140-146, 2009. ,
Arch Pédiatrie Organe Off Sociéte Fr Pédiatrie, sept, vol.22, issue.9, pp.956-60, 2015. ,
Autism traits in the RASopathies, J Med Genet. janv, vol.51, issue.1, pp.10-20, 2014. ,
Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1, Am J Med Genet Part B Neuropsychiatr Genet Off Publ Int Soc Psychiatr Genet. janv, vol.168, issue.1, pp.72-80, 2015. ,
Neurofibromatosis type 1: psychiatric disorders and quality of life impairment ,
URL : https://hal.archives-ouvertes.fr/hal-00093853
, févr, vol.35, issue.2, pp.277-80, 1983.
Behavioral Profile in RASopathies, Am J Med Genet A. 1 avr, vol.164, issue.4, pp.934-976, 2014. ,
Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome, Am J Med Genet A. mars, vol.152, issue.3, pp.591-600, 2010. ,
Personality profiles of children and adolescents with neurofibromatosis type 1, Am J Med Genet A. 1 avr, vol.118, issue.1, pp.1-7, 2003. ,
Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome, Am J Med Genet A. déc, vol.149, issue.12, pp.2666-72, 2009. ,
Neuropsychological and behavioral aspects of Noonan syndrome, Horm Res. déc, vol.72, issue.2, pp.15-23, 2009. ,
Social Contact and Cognitive Functioning: The Role of Personality, J Gerontol B Psychol Sci Soc Sci. 9 août, 2016. ,
Heritability estimates of the Big Five personality traits based on common genetic variants, Transl Psychiatry. 14 juill, vol.5, issue.7, p.604, 2015. ,
A Genome-Wide Association Study of Neuroticism in a Population-Based Sample, PLOS ONE. juil, vol.5, issue.7, p.11504, 2010. ,
Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive, Res Dev Disabil. août, vol.35, issue.8, pp.1838-1887, 2014. ,
Parent insights into atypicalities of social approach behaviour in Williams syndrome, J Intellect Disabil Res JIDR. 25 avr, 2016. ,
Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles, Psychiatry Res, vol.189, issue.3, pp.440-445, 2011. ,
A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome, Compr Psychiatry. avr, vol.58, pp.189-97, 2015. ,
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome, J Med Genet, vol.45, issue.11, pp.710-730, 2008. ,
, Annu Rev Genomics Hum Genet, vol.14, pp.355-69, 2013.
, Neurofibromatosis Type 1 and Autism Spectrum Disorder. Pediatrics. 1 déc, vol.132, issue.6, pp.1642-1650, 2013.
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome, Nat Genet. mars, vol.38, issue.3, pp.294-300, 2006. ,
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome, Science. 3 mars, vol.311, issue.5765, pp.1287-90, 2006. ,
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey, Am J Med Genet A. 1 mai, vol.158, issue.5, pp.1083-94, 2012. ,
Germline mutations in HRAS proto-oncogene cause Costello syndrome, Nat Genet, vol.37, issue.10, pp.1038-1078, 2005. ,
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment, Arch Dermatol. janv, vol.141, issue.1, pp.71-75, 2005. ,
Noonan syndrome: clinical aspects and molecular pathogenesis, Mol Syndromol. févr, vol.1, issue.1, pp.2-26, 2010. ,
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotypephenotype correlations, Hum Mutat. juill, vol.32, issue.7, pp.760-72, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00636633
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome, Am J Hum Genet. 11 juill, vol.93, issue.1, pp.173-80, 2013. ,
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype, Am J Hum Genet. 13 août, vol.87, issue.2, pp.250-257, 2010. ,
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1, Neurology, vol.65, issue.7, pp.1037-1081, 2005. ,
Neurofibromatosis type 1: new insights into neurocognitive issues, Curr Neurol Neurosci Rep. mars, vol.6, issue.2, pp.136-179, 2006. ,
Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling, PLoS ONE, vol.7, issue.2016 ,
Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder, Nature. 15 juill, vol.466, issue.7304, pp.368-72, 2010. ,
Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism, Psychiatry Res. mars, vol.46, issue.3, pp.261-268, 1993. ,
Eric Legius, et al. NF1 gene mutations engender the full spectrum of autism, JAMA Psychiatry ,
The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders, J Clin Invest. avr, vol.119, issue.4, pp.747-54, 2009. ,
Distribution and WithinFamily Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I, J Pediatr. sept, vol.167, issue.3, pp.621-626, 2015. ,
Autism spectrum disorder profile in neurofibromatosis type I, J Autism Dev Disord. juin, vol.45, issue.6, pp.1649-57, 2015. ,
Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study, Dev Med Child Neurol. févr, vol.55, issue.2, pp.139-184, 2013. ,
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1, Dev Med Child Neurol. févr, vol.55, issue.2, pp.131-139, 2013. ,
Further delineation of the behavioral and neurologic features in Costello syndrome, Am J Med Genet A. 1 avr, vol.118, issue.1, pp.8-14, 2003. ,
Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome, Am J Med Genet A. 1 août, vol.128, issue.4, pp.396-400, 2004. ,
The « big five questionnaire »: A new questionnaire to assess the five factor model, Personal Individ Differ. 1 sept, vol.15, issue.3, pp.281-289, 1993. ,
The Sense of Humor: Explorations of a Personality Characteristic, vol.512, 2007. ,
A behavioral genetic investigation of humor styles and their correlations with the Big-5 personality dimensions, Personal Individ Differ. avr, vol.44, issue.5, pp.1116-1141, 2008. ,
A questionnaire for measuring the Big Five in late childhood, Personal Individ Differ. mars, vol.34, issue.4, pp.645-64, 2003. ,
Anxiety and depressive disorders and the five-factor model of personality: A higher-and lower-order personality trait investigation in a community sample, Depress Anxiety. 1 janv, vol.20, issue.2, pp.92-99, 2004. ,
Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review, Am J Med Genet C Semin Med Genet. 15 mai, vol.157, issue.2, pp.115-137, 2011. ,
Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome, Genet Med Off J Am Coll Med Genet. déc, vol.14, issue.12, pp.977-82, 2012. ,
Age and gender might influence big five factors of personality: a preliminary report in Indian population, Indian J Physiol Pharmacol. déc, vol.58, issue.4, pp.381-389, 2014. ,
An Investigation of Five Types of Personality Trait Continuity: A Two-Wave Longitudinal Study of Spanish Adolescents from Age 12 to Age 15, Front Psychol, vol.7, p.512, 2016. ,
Do personality scale items function differently in people with high and low IQ?, Psychol Assess. sept, vol.24, issue.3, pp.545-55, 2012. ,
A population-based study of personality in 34,000 sib-pairs, Twin Res Off J Int Soc Twin Stud. déc, vol.3, issue.4, pp.310-315, 2000. ,
Further evidence against the environmental transmission of individual differences in neuroticism from a collaborative study of 45,850 twins and relatives on two continents, Behav Genet. mai, vol.30, issue.3, pp.223-256, 2000. ,
Comparing the biological and cultural inheritance of personality and social attitudes in the Virginia 30 000 study of twins and their relatives, Twin Res Hum Genet. avr, vol.2, issue.02, pp.62-80, 1999. ,
Parental perceptions of child behavior problems, parenting self-esteem, and mothers' reported stress in younger and older hyperactive and normal children, J Consult Clin Psychol. févr, vol.51, issue.1, pp.86-99, 1983. ,
Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion, Transl Psychiatry. 17 avr, vol.2, issue.4, p.102, 2012. ,
Microsatellite polymorphisms associated with human behavioural and psychological phenotypes including a gene-environment interaction, BMC Med Genet. 3 févr, vol.18, issue.1, p.12, 2017. ,