Marion Gerard-Blanluet

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BACKGROUND Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a(More)
Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in Europe are affected. It is a true public health stake since most diseases do not have any curative(More)
BACKGROUND Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion(More)
service Email alerting top right corner of the article Receive free email alerts when new articles cite this article-sign up in the box at the Notes Online First articles must include the digital object identifier (DOIs) and date of initial publication. establish publication priority; they are indexed by PubMed from initial publication. Citations to may be(More)
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