Cécile Mignon-Ravix - 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.
Periventricular heterotopia, mental retardation and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon J, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater H, Moncla A, Scheffer IE, Guerrini R.
Neurology, 2009, 72:784-792.
2008
In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin.
Metzler-Guillemain C, Depetris D, Luciani JJ, Mignon-Ravix C, Mitchell MJ, Mattei MG.
Chromosome Research 2008, 16:761-782.
2007
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.
2006
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.
Luciani JJ, Depetris D, Usson Y, Metzler-Guillemain C, Mignon-Ravix C, Mitchell MJ, Megarbane A, Sarda P, Sirma H, Moncla A, Feunteun J, Mattei MG.
Journal of Cell Science, 2006, 119:2518-2531.
2005
Intrachromosomal triplication for the distal part of chromosome 15q.
Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E.
American Journal of Medical Genetics, 2005, 136:179-184.
XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans.
Cardoso C, Couillault C, Mignon-Ravix C, Millet A, Ewbank JJ, Fontes M, Pujol N.
Developmental Biology, 2005, 278:49-59.
Subcellular distribution of HP1 proteins is altered in ICF syndrome.
Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG.
European Journal of Human Genetics, 2005, 13:41-51.
2003
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.
Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG.
Journal of Medical Genetics, 2003, 40:690-696.
Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.
Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoi MF, Moirot H, Mattei MG.
American Journal of Medical Genetics, 2003, 118:229-234.
2002
A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.
Mignon-Ravix C, Depetris D, Delobel B, Croquette MF, Mattei MG.
European Journal of Human Genetics, 2002, 10:107-112.
2001
Maternally inherited duplication of the possible imprinted 14q31 region.
Mignon-Ravix C, Mugneret F, Stavropoulou C, Depetris D, Khau Van Kien P, Mattei MG.
Journal of Medical Genetics, 2001, 38:343-347.
2000
Organization of the X and Y chromosomes in human, chimpanzee and mouse pachytene nuclei using molecular cytogenetics and three-dimensional confocal analyses.
Metzler-Guillemain C, Usson Y, Mignon C, Depetris D, Dubreuil G, Guichaoua MR, Mattei MG.
Chromosome Research, 2000, 8:571-584.
The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.
Cardoso C, Mignon C, Hetet G, Grandchamps B, Fontes M, Colleaux L.
European Journal of Human Genetics, 2000, 8:174-180.
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L.
Journal of Medical Genetics, 2000, 37:746-751.
1999
Bivalent 15 regularly associates with the sex vesicle in normal male meiosis.
Metzler-Guillemain C, Mignon C, Depetris D, Guichaoua MR, Mattei MG.
Chromosome Research, 1999, 7:369-378.
1998
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.
Journal of Medical Genetics, 1998, 35:932-938.
1997
The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.
Watrin F, Roeckel N, Lacroix L, Mignon C, Mattei MG, Disteche C, Muscatelli F.
European Journal of Human Genetics, 1997, 5:324-332.
Mapping of the galectin-3 gene (LGALS3) to human chromosome 14 at region 14q21-22.
Raimond J, Zimonjic DB, Mignon C, Mattei M, Popescu NC, Monsigny M, Legrand A.
Mammalian Genome, 1997, 8:706-707.
Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.
Mignon C, Parente F, Stavropoulou C, Collignon P, Moncla A, Turc-Carel C, Mattei MG.
Journal of Medical Genetics, 1997, 34:217-222.
1996
Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization.
Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A.
Mammalian Genome, 1996, 7:791-792.
Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization.
Mignon C, Fromaget C, Mattei MG, Gros D, Yamasaki H, Mesnil M.
Cytogenetics and Cell Genetics, 1996, 72:185-186.
Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.
Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG.
European Journal of Human Genetics, 1996, 4:88-100.
1995
Locations of the ets subfamily members net, elk1, and sap1 (ELK3, ELK1, and ELK4) on three homologous regions of the mouse and human genomes.
Giovane A, Sobieszczuk P, Mignon C, Mattei MG, Wasylyk B.
Genomics, 1995, 29:769-772.
Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.
Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, Lazdunski M, Barbry P.
Genomics, 1995, 28:560-565.
Assignment of the human membrane-type matrix metalloproteinase (MMP14) gene to 14q11-q12 by in situ hybridization.
Mignon C, Okada A, Mattei MG, Basset P.
Genomics, 1995, 28:360-361.