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Marguerite Prieur

Curie Institute
Necker-Enfants Malades Hospital

119

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4451

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Mosaic tetrasomy 12p

2008 Clinical Genetics
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Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome

2008 Clinical Genetics
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Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome

2008 Pediatrics
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Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes

2007 American Journal of Human Genetics
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Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

2007 Clinical Genetics
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Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

2006 European Journal of Medical Genetics
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Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

2006 American Journal of Medical Genetics Part A
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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

2006 Journal of Medical Genetics
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spectrum disorders rearrangements in patients with syndromic autism identifies high frequency of cryptic chromosomal Array-based comparative genomic hybridisation

2006
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Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver

2006 Biochemical and Biophysical Research Communications
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Citations (6)