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List of works by Anne Philippe

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

Analysis of ten candidate genes in autism by association and linkage

scientific article published in March 2002

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

scientific article published on 13 July 2006

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

scientific article published on 21 October 2015

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

scientific article published in July 2008

Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.

scientific article published in April 2005

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

scientific article (publication date: May 1999)

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

scientific article

Investigation of two variants in the DOPA decarboxylase gene in patients with autism

scientific article

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

scientific article published on 29 November 2006

Levels of autistic traits in anorexia nervosa: a comparative psychometric study

scientific article

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

scientific article (publication date: 2006)

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

scientific article

Perception of complex sounds in autism: abnormal auditory cortical processing in children

scientific article published in November 2004

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders

scientific article published in December 2008

Towards early screening of autism

scientific article published in May 2003

Tracking social motivation systems deficits: the affective neuroscience view of autism.

scientific article published on 28 June 2015

Whole blood serotonin and plasma beta-endorphin in autistic probands and their first-degree relatives.

scientific article published in January 1999

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

scientific article published on 11 February 2015

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

scientific article

Y chromosome haplogroups in autistic subjects

scientific article published in January 2002

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

scientific article

[Left temporal arachnoid cyst and specific learning disorders associated with Pervasive Developmental Disorders - Not Otherwise Specified (PDD-NOS): contributions of an integrative neuropsychomotor, neuropsychological, psychopathological and neurosu

scientific article published on 16 September 2016

fMRI investigation of visual change detection in adults with autism

scientific article

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