Genomes and Genes
- Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhoodAnne Philippe
National Institute of Health and Medical Research and Department of Genetics, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
Pediatrics 122:e376-82. 2008..Our goal is to contribute to the description of the neurobehavioral phenotype and brain abnormalities of this microdeletional syndrome...
- Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorderAnne Philippe
Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, UMR1163, Paris, France
BMC Psychiatry 15:256. 2015..Better knowledge of the clinical spectrum of SHANK3 haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling...
- Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defectVassili Valayannopoulos
Reference Center for Inherited Metabolic Disorders MaMEA, Necker Enfants Malades Hospital, Paris Descartes University, 149 rue de Sevres, 75743 Paris Cedex, France
J Inherit Metab Dis 35:151-7. 2012..X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene...
- Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearanceAnne Philippe
Universite Paris Descartes, INSERM U 781 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet A 161:1370-5. 2013....
- Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disordersFabrice Laroche
INSERM Avenir, Institut Jacques Monod UMR7592, Paris, France
Psychiatr Genet 18:295-301. 2008..Our goal was to identify variations of coding trinucleotide repeats in schizophrenia, autism, and idiopathic mental retardation...
- Tracking social motivation systems deficits: the affective neuroscience view of autismArnaud Carré
Mental Health and Public Health, INSERM, U1178, 75014, Paris, France
J Autism Dev Disord 45:3351-63. 2015..In the overall sample, levels of autistic traits (AQ) were related to SAS and PLAYFULNESS. We argue that PLAYFULNESS could be at the root of social bonding impairments in ASD. ..
- Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndromeGuntram Borck
INSERM U781 and Department of Medical Genetics, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, Assistance Publique Hopitaux de Paris, Paris, France
Hum Mutat 29:966-74. 2008....
- Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGregory Raux
Department of Genetics and Inserm U614, IFRMP, Faculty of Medicine, Rouen, France
Hum Mol Genet 16:83-91. 2007....
- Autism severity and temporal lobe functional abnormalitiesIsabelle Gendry Meresse
ERM 0205 Institut National de la Sante et de la Recherche Médicale CEA, Service Hospitalier F Joliot, DSV, DRM, CEA, Orsay, France
Ann Neurol 58:466-9. 2005..The more severe the autistic syndrome, the more rCBF is low in this region, suggesting that left superior temporal hypoperfusion is related to autistic behavior severity...
- Perception of complex sounds in autism: abnormal auditory cortical processing in childrenNathalie Boddaert
Commissariat a l Energie Atomique, Service Hospitalier Frederic Joliot, 4 Place du General Leclerc, 91406 Orsay, France
Am J Psychiatry 161:2117-20. 2004..Here, they investigated whether this abnormal cortical processing was also present in children with primary autism...