Pierre Cacciagli - Publications
2010
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L.
European Journal of Human Genetics, 2010, sous presse.
Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia.
Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.
Journal of Medical Genetics, 2010, 47:132-136.
2009
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.
European Journal of Medical Genetics, 2009, 52:211-217.
2008
TCF4 deletions in Pitt-Hopkins syndrome.
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Lambert JC, Philip N, Sarda P, Villard L, Goossens M, Moncla A.
Human Mutation, 2008, 29:E242-251.
2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N. Human Mutation, 2007, 28:1183-1188.