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...
- 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...
- 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....
- 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...
- Perception of complex sounds in autism: abnormal auditory cortical processing in childrenNathalie Boddaert
Commissariat a l'Energie Atomique, , , 91406 Orsay, France
Am J Psychiatry 161:2117-20. 2004..The abnormal cortical auditory processing observed in both children and adults with autism could be involved in inadequate behavioral responses to sounds and in language impairments characteristic of autism...
- Autism severity and temporal lobe functional abnormalitiesIsabelle Gendry Meresse
, 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...
- 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....