Empreinte génomique: recherche de nouvelles régions et d'effets éventuels en pathologie humaine = Genomic imprinting: search for new imprinted regions and potential effects in human genetic disordersMignon Ravix, Cécile; Mattei, Marie-Geneviève.1997, 286 p.Thesis

Aspects cliniques et bases moléculaires du syndrome d'α-thalassémie associée à un retard mental = Clinical and molecular basis of the X-linked α-thalassemia and mental retardation syndrome (ATR-X)CARDOSO, Carlos; BADENS, Catherine; MATTEI, Marie-Geneviève et al.Hématologie (Montrouge). 2003, Vol 9, Num 4, pp 283-290, issn 1264-7527, 8 p.Article

Les syndromes microdélétionnels = Microdeletional syndromesMONDA, Anne; MALZAC, Pierre; PHILIP, Nicole et al.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 25-34, issn 0034-222XArticle

Synteny comparison between apes and human using fine-mapping of the genomeDE PONTBRIAND, Alexandra; WANG, Xiao-Ping; CAVALOC, Yvon et al.Genomics (San Diego, Calif.). 2002, Vol 80, Num 4, pp 395-401, issn 0888-7543, 7 p.Article

The myosin light chain kinase gene is not duplicated in mouse: partial structure and chromosomal localization of MylkGIORGI, Dominique; FERRAZ, Concepcion; MATTEI, Marie-Geneviève et al.Genomics (San Diego, Calif.). 2001, Vol 75, Num 1-3, pp 49-56, issn 0888-7543Article

Recurrent rearrangements in the proximal 15q11-q14 region : a new breakpoint cluster specific to unbalanced translocationsMIGNON-RAVIX, Cécile; DEPETRIS, Danielle; KROISEL, Peter M et al.European journal of human genetics. 2007, Vol 15, Num 4, pp 432-440, issn 1018-4813, 9 p.Article

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers : a Lebanese studyDELAGUE, Valérie; SOUAID, Myrna; CHOUERY, Eliane et al.European journal of medical genetics. 2006, Vol 49, Num 2, pp 117-126, issn 1769-7212, 10 p.Article

hH-Rev107, a class II tumor suppressor gene, is expressed by post-meiotic testicular germ cells and CIS cells but not by human testicular germ cell tumorsSIEGRIST, Sylvie; FERAL, Chloé; CHAMI, Mounia et al.Oncogene (Basingstoke). 2001, Vol 20, Num 37, pp 5155-5163, issn 0950-9232Article

The del22q11.2 Candidate Gene Tbxl Controls Regional Outflow Tract Identity and Coronary Artery PatterningTHEVENIAU-RUISSY, Magali; DANDONNEAU, Mathieu; MESBAH, Karim et al.Circulation research. 2008, Vol 103, Num 2, pp 142-148, issn 0009-7330, 7 p.Article

Subcellular distribution of HP1 proteins is altered in ICF syndromeLUCIANI, Judith J; DEPETRIS, Danielle; MISSIRIAN, Chantal et al.European journal of human genetics. 2005, Vol 13, Num 1, pp 41-51, issn 1018-4813, 11 p.Article

Mechanism of intrachromosomal triplications 15q11-q13: A new clinical reportVIALARD, Francois; MIGNON-RAVIX, Cécile; PARAIN, Dominique et al.American journal of medical genetics. 2003, Vol 118A, Num 3, pp 229-234, issn 0148-7299, 6 p.Article

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X proteinCARDOSO, Carlos; LUTZ, Yves; MIGNON, Cecile et al.Journal of medical genetics. 2000, Vol 37, Num 10, pp 746-751, issn 0022-2593Article

Identification of MAL2, a novel member of the MAL proteolipid family, though interactions with TPD52-like proteins in the yeast two-hybrid systemWILSON, Sarah H. D; BAILEY, Angela M; NOURSE, Craig R et al.Genomics (San Diego, Calif.). 2001, Vol 76, Num 1-3, pp 81-88, issn 0888-7543Article

Molecular cloning and characterization of the human KIN17 cDNA encoding a component of the UVC response that is conserved among metazoansKANNOUCHE, Patricia; MAUFFREY, Philippe; PINON-LATAILLADE, Ghislaine et al.Carcinogenesis (New York. Print). 2000, Vol 21, Num 9, pp 1701-1710, issn 0143-3334Article

SRPX2 mutations in disorders of language cortex and cognitionROLL, Patrice; RUDOLF, Gabrielle; SEEGMULLER, Caroline et al.Human molecular genetics (Print). 2006, Vol 15, Num 7, pp 1195-1207, issn 0964-6906, 13 p.Article

A human-mouse chimera of the α3α4α5(IV) collagen protomer rescues the renal phenotype in Col4a3^-/- Alport miceHEIDET, Laurence; BORZA, Dorin-Bogdan; JOUIN, Mélanie et al.The American journal of pathology. 2003, Vol 163, Num 4, pp 1633-1644, issn 0002-9440, 12 p.Article

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 retardationGIRAUDEAU, Fabienne; TAINE, Laurence; HAUCK, Yolande et al.Journal of medical genetics. 2001, Vol 38, Num 2, pp 121-125, issn 0022-2593Article