Chantal Missirian - Publications
2008
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.
Mochel F, Missirian C, Reynaud R, Moncla A. European Journal of Medical Genetics, 2008, 51:68-73.
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.
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG. European Journal of Human Genetics, 2007, 15:432-440.
Truncation of NHEJ1 in a patient with polymicrogyria.
Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Human Mutation, 2007, 28:356-364.
2005
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.
Philip N, Colleaux L, Sigaudy S, Attie-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. American Journal of Medical Genetics, 2005, 134:39-44.
Subcellular distribution of HP1 proteins is altered in ICF syndrome.
Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Mégarbané A, Moncla A, Mattéi MG. European Journal of Human Genetics, 2005, 13:41-51.
2004
Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: Evidence by microarray CGH.
Moncla A, Missirian C, Philip N, Marlin S. American Journal of Medical Genetics, 2004, 131:314-317.
2002
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. European Journal of Human Genetics, 2002, 10:86-89.
2001
Wolf-Hirschhorn (4P-) syndrome in adults.
Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F, Sigaudy S, Missirian C, Philip N, Fryns JP. Genetic Counselling, 2001, 12:35-48.
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Journal of Medical Genetics, 2001, 38:121-125.
2000
Fragile X syndrome and 22q11.2 microdeletion in the same sibship.
Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. American Journal of Medical Genetics, 2000, 95:358-360.
Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.
Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA. American Journal of Medical Genetics, 2000, 95:10-12.