Medical and behavioural aspects of Angelman syndrome, Rev Neurol, vol.41, issue.11, pp.649-56, 2005. ,
Behavioral aspects of Angelman syndrome: a case control study, Am J Med Genet A, vol.132, issue.1, pp.8-12, 2005. ,
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome, Developmental Medicine & Child neurology, vol.46, pp.239-243, 2004. ,
Angelman syndrome: review of clinical and molecular aspects, Appl Clin Genet, vol.7, pp.93-104, 2014. ,
Angelman syndrome -insights into a rare neurogenetic disorder, Nat Rev Neurol, vol.12, issue.10, pp.584-93, 2016. ,
Parents' reports of patterns of use and exposure to practices associated with AAC acceptance by individuals with Angelman syndrome, Augment Altern Commun, vol.29, issue.2, pp.146-58, 2013. ,
Parents' perceptions of communication patterns and effectiveness of use of augmentative and alternative communication systems by their children with Angelman syndrome, Am J Speech Lang Pathol, vol.23, issue.4, pp.562-73, 2014. ,
Angelman syndrome: a review of the clinical and genetic aspects, J Med Genet, vol.40, issue.2, pp.87-95, 2003. ,
Molecular and clinical aspects of Angelman syndrome, Mol Syndromol, vol.2, pp.100-112, 2011. ,
Postural rhythmic muscle bursting activity in Angelman syndrome, Brain & Development, vol.26, pp.389-393, 2004. ,
Somatosensory and Sensorimotor Consequences Associated with the Heterozygous Disruption of the Autism Candidate Gene, Gabrb3. Behav Brain Res, vol.216, pp.36-45, 2011. ,
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology, Human Molecular Genetics, vol.17, issue.1, pp.111-118, 2008. ,
Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome, Neuroimage, vol.39, issue.2, pp.593-602, 2008. ,
Paternal UPD 15: further genetic and clinical studies in four Angelman syndrome patients, Am J Med Genet, vol.92, issue.5, pp.322-329, 2000. ,
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome, Epileptic Disord, vol.7, issue.1, pp.19-25, 2005. ,
A neurodevelopmental survey of Angelman syndrome with genotypephenotype correlations, J Dev Behav Pediatr, vol.31, issue.7, pp.592-601, 2010. ,
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study, J Appl Res Intellect Disabil, vol.31, issue.6, pp.1219-1224, 2018. ,
Angelman syndrome: etiology, clinical features, diagnosis and management of symptoms, Pediatr Drugs, vol.5, issue.10, pp.647-61, 2003. ,
Pharmacologic Evidence for Abnormal Thalamocortical Functioning in GABA A Receptor ?3 Subunit-Deficient Mice, a Model of Angelman Syndrome, Epilepsia, vol.46, issue.12, pp.1860-1870, 2005. ,
BMP signaling downstream of the Highwire E3 ligase sensitizes nociceptors, PLoS Genet, vol.14, issue.7, p.1007464, 2018. ,
Behavioral deficits in an Angelman syndrome model: effects of genetic background and age, Behav Brain Res, vol.243, pp.79-90, 2013. ,
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome, Mol Neurobiol, vol.54, issue.7, pp.5319-5326, 2017. ,
GABA A receptor ?3 subunit expression regulates tonic current in developing striatopallidal medium spiny neurons. Front Cell Neurosci, vol.5, p.15, 2011. ,
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation, Neuron, vol.21, pp.799-811, 1998. ,
UBE3A/E6-AP mutations cause Angelman syndrome, Nat Genet, vol.15, issue.1, pp.70-73, 1997. ,
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila, PLoS Genet, vol.12, issue.5, p.1006062, 2016. ,
A receptor h3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in h3 subunit levels, EEG, and behavior, Brain Res Dev Brain Res, vol.157, issue.2, pp.150-61, 2005. ,
Distinct phenotypes distinguish the molecular classes of Angelman syndrome, J Med Genet, vol.38, pp.834-845, 2001. ,
Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression, Proc Natl Acad Sci, vol.112, issue.16, pp.5129-5163, 2015. ,
De novo truncating mutations un E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome, Nat Genet, vol.15, issue.1, pp.74-81, 1997. ,
Enhanced Nociception in Angelman Syndrome Model Mice, J Neurosci, vol.37, issue.42, pp.10230-10239, 2017. ,
Angelman Syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis, Am J Med Genet A, vol.161, issue.9, pp.2197-203, 2013. ,
Ophthalmic findings in Angelman syndrome, J AAPOS, vol.15, issue.2, pp.158-61, 2011. ,
Phenotype-genotype correlation in 20 deletion and 20 nondeletion Angelman syndrome patients, Eur J Hum Genet, vol.7, issue.2, pp.131-140, 1999. ,
Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs, Cell, vol.166, issue.2, pp.299-313, 2016. ,
Behavioral and neuropsychiatric manifestations in Angelman syndrome, Neuropsychiatr Dis Treat, vol.4, issue.3, pp.577-84, 2008. ,
Cognitive and adaptative behavior profiles of children with Angelman syndrome, Am J Med Genet, vol.128, pp.100-103, 2004. ,
Alterations in white matter pathways in Angelman syndrome, Dev Med Child Neurol. 2011, vol.53, issue.4, pp.361-367 ,
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class, Journal of Child Psychology an Psychiatry, vol.53, issue.2, pp.152-159, 2012. ,
cytogenetic and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county, Am J Med Genet, vol.60, issue.3, pp.261-263, 1995. ,
Incontinence in individuals with Angelman syndrome: a comparative study, Res Dev Disabil, vol.34, issue.11, pp.4184-93, 2013. ,
Concerns as They Relate to Their Child's Development and Later Diagnosis of Autism Spectrum Disorder, J Dev Behav Pediatr, vol.37, issue.7, pp.532-572, 2016. ,
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex, Neurosci Lett, vol.483, issue.3, pp.167-72, 2010. ,
Can parents' concerns predict autism spectrum disorder? A prospective study of high-risk siblings from 6 to 36 months of age, J Am Acad Child Adolesc Psychiatry, vol.54, issue.6, pp.470-478, 2015. ,
Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a, Proc Natl Acad Sci, vol.107, issue.12, pp.5611-5617, 2010. ,
Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome, J Neurosci, vol.38, issue.11, pp.2671-2682, 2018. ,
Angelman syndrome: evolution of the phenotype in adolescents and adults, Dev Med Child Neurol, vol.43, issue.7, pp.476-80, 2001. ,
Angelman syndrome: mutations influence features in early childhood, Am J Med Genet A, vol.155, issue.1, pp.81-90, 2011. ,
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options, Epilepsia, vol.50, issue.11, pp.2369-2376, 2009. ,
Neurologic manifestations of Angelman syndrome, Pediatric Neurology, vol.48, pp.271-279, 2013. ,
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13, Arch Neurol, vol.63, issue.1, pp.122-130, 2006. ,
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects, Eur J Hum Genet, vol.12, issue.12, pp.987-92, 2004. ,
Sensory Processing Patterns in Persons With Angelman Syndrome, American Journal of Occupational Therapy, vol.60, pp.472-479, 2006. ,
Parent report of stereotyped behaviors, social interaction, and developmental disturbance in individuals with Angelman syndrome, J Autism Dev Disord, vol.37, issue.5, pp.940-947, 2007. ,
Unmet clinical needs and burden in Angelman syndrome: a review if the literature, Orphanet Journal of Rare Diseases, vol.12, p.164, 2017. ,
Angelman syndrome: consensus for diagnosis criteria, Am J Med Genet, vol.56, issue.2, pp.237-245, 1995. ,
Angelman syndrome 2005: updated consensus for diagnostic criteria, American Journal of Medical Genetics, vol.140, pp.413-418, 2006. ,
The behavioral phenotype of the Angelman syndrome, Am J Med Genet C Semin Med Genet, vol.154, issue.4, pp.432-439, 2010. ,
Ube3a is required for experience-dependent maturation of the neocortex, Nat Neurosci, vol.12, issue.6, pp.777-783, 2009. ,
,
, Au moment d'être admise à exercer la médecine, je promets et je jure d'être fidèle aux lois de l'honneur et de la probité
, Mon premier souci sera de rétablir, de préserver ou de promouvoir la santé dans tous ses éléments, physiques et mentaux, individuels et sociaux
, Je respecterai toutes les personnes, leur autonomie et leur volonté, sans aucune discrimination selon leur état ou leurs convictions. J'interviendrai pour les protéger si elles sont affaiblies
, Même sous la contrainte, je ne ferai pas usage de mes connaissances contre les lois de l'humanité
, Je ne tromperai jamais leur confiance et n'exploiterai pas le pouvoir hérité des circonstances pour forcer les consciences
, Je ne me laisserai pas influencer par la soif du gain ou la recherche de la gloire
, Admise dans l'intimité des personnes, je tairai les secrets qui me seront confiés
, Reçue à l'intérieur des maisons, je respecterai les secrets des foyers et ma conduite ne servira pas à corrompre les moeurs
, Je ne prolongerai pas abusivement les agonies. Je ne provoquerai jamais la mort délibérément
, Je n'entreprendrai rien qui dépasse mes compétences. Je les entretiendrai et les perfectionnerai pour assurer au mieux les services qui me seront demandés
, J'apporterai mon aide à mes confrères ainsi qu'à leurs familles dans l'adversité
, Que les hommes et mes confrères m'accordent leur estime si je suis fidèle à mes promesses ; que je sois déshonorée et méprisée si j'y manque