Anne Philippe

Summary

Country: France

Publications

  1. ncbi 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. ncbi 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. ncbi 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
  4. ncbi 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 Perception of complex sounds in autism: abnormal auditory cortical processing in children
    Nathalie Boddaert
    Commissariat a l'Energie Atomique, , , 91406 Orsay, France
    Am J Psychiatry 161:2117-20. 2004
  6. ncbi Autism severity and temporal lobe functional abnormalities
    Isabelle Gendry Meresse
    , Service Hospitalier F Joliot, DSV, DRM, CEA, Orsay, France
    Ann Neurol 58:466-9. 2005
  7. ncbi 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

  • Arnold Munnich
  • Laurence Colleaux
  • Philip Gorwood
  • Alexandra Afenjar
  • Gajja S Salomons
  • Vassili Valayannopoulos
  • Guntram Borck
  • Valerie Malan
  • Marie Odile Krebs
  • Delphine Heron
  • David Cheillan
  • N Boddaert
  • J Zinkstok
  • Fabrice Laroche
  • Gregory Raux
  • Laurence Robel
  • Isabelle Gendry Meresse
  • Thierry Galli
  • Nicolas Ramoz
  • Marie Christine Mouren-Simeoni
  • Bérangère Rousselot-Paillet
  • Jean Louis Bresson
  • Michel Simonneau
  • Bernard Golse
  • Agnes Mogenet
  • Célia Fortin
  • Sophie Leroy
  • Caroline Demily
  • Pierre Sarda
  • Gaelle Opolczynski
  • Therese Van Amelsvoort
  • Florence Thibaut
  • Thierry Frebourg
  • Aude Gérard-Desplanches
  • Gabriella Di Rosa
  • Solenn Legallic
  • Michel Petit
  • Carole Fantini
  • Valérie Layet
  • Dominique Campion
  • Michele Carlier
  • Cyril Coizet
  • Sylvie Manouvrier-Hanu
  • Valérie Drouin-Garraud
  • Nicole Philip
  • Didier Hannequin
  • Yves Alembik
  • Ann Swillen
  • Marie Christine Nolen
  • Marie Lemarchand
  • Bernadette Hecketsweiler
  • Georges Marie M Brévière
  • Didier Lacombe
  • Annick Vogels
  • Jacqueline Bou
  • Emilie Bumsel
  • Giuseppina Pustorino
  • Marie-Christine Mouren
  • Yves Samson
  • Francis Brunelle
  • Nadia Chabane
  • Ignacio Sfaello
  • Laurence Laurier

Detail Information

Publications7

  1. ncbi 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. ncbi 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. ncbi 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
    ....
  4. ncbi 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 Perception of complex sounds in autism: abnormal auditory cortical processing in children
    Nathalie 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...
  6. ncbi Autism severity and temporal lobe functional abnormalities
    Isabelle 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...
  7. ncbi 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
    ....