9 results on '"Mugneret, F"'
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2. Cytogenetic and arrayCGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndromeHow to cite this article: Mosca AL, Callier P, MasurelPaulet A, ThauvinRobinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L. 2010. Cytogenetic and arrayCGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos Syndrome. Am J Med Genet Part A 152A:1314–1317.
3. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
4. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
5. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
6. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
7. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
8. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
9. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion
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