Anne Philippe

Summary

Country: France

Publications

  1. doi request reprint Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood
    Anne 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
  2. doi request reprint Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect
    Vassili 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
  3. doi request reprint Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance
    Anne 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
  4. doi request reprint Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders
    Fabrice Laroche
    INSERM Avenir, Institut Jacques Monod UMR7592, Paris, France
    Psychiatr Genet 18:295-301. 2008
  5. ncbi request reprint Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome
    Guntram 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
  6. ncbi request reprint Perception of complex sounds in autism: abnormal auditory cortical processing in children
    Nathalie 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
  7. ncbi request reprint Autism severity and temporal lobe functional abnormalities
    Isabelle 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
  8. ncbi request reprint Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
    Gregory Raux
    Department of Genetics and Inserm U614, IFRMP, Faculty of Medicine, Rouen, France
    Hum Mol Genet 16:83-91. 2007

Collaborators

Detail Information

Publications8

  1. doi request reprint Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood
    Anne 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...
  2. doi request reprint Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect
    Vassili 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...
  3. doi request reprint Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance
    Anne 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
    ....
  4. doi request reprint Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders
    Fabrice 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...
  5. ncbi request reprint Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome
    Guntram 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
    ....
  6. ncbi request reprint Perception of complex sounds in autism: abnormal auditory cortical processing in children
    Nathalie 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...
  7. ncbi request reprint Autism severity and temporal lobe functional abnormalities
    Isabelle 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...
  8. ncbi request reprint Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome
    Gregory Raux
    Department of Genetics and Inserm U614, IFRMP, Faculty of Medicine, Rouen, France
    Hum Mol Genet 16:83-91. 2007
    ....