| Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome I Oberle, F Rousseau, D Heitz, C Kretz, D Devys, A Hanauer, J Boue, ... Science 252 (5009), 1097-1102, 1991 | 1836 | 1991 |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture K Estrada, U Styrkarsdottir, E Evangelou, YH Hsu, EL Duncan, EE Ntzani, ... Nature genetics 44 (5), 491-501, 2012 | 1340 | 2012 |
| Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation F Rousseau, D Heitz, V Biancalana, S Blumenfeld, C Kretz, J Boué, ... New England Journal of Medicine 325 (24), 1673-1681, 1991 | 757 | 1991 |
| Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture HF Zheng, V Forgetta, YH Hsu, K Estrada, A Rosello‐Diez, PJ Leo, ... Nature 526 (7571), 112-117, 2015 | 586 | 2015 |
| Prevalence and detection of delirium in elderly emergency department patients M Élie, F Rousseau, M Cole, F Primeau, J McCusker, F Bellavance Cmaj 163 (8), 977-981, 2000 | 522 | 2000 |
| Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome F Rousseau, P Rouillard, ML Morel, EW Khandjian, K Morgan American journal of human genetics 57 (5), 1006, 1995 | 476 | 1995 |
| Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles SL Nolin, WT Brown, A Glicksman, GE Houck Jr, AD Gargano, A Sullivan, ... The American Journal of Human Genetics 72 (2), 454-464, 2003 | 473 | 2003 |
| A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ... American journal of human genetics 55 (2), 225, 1994 | 369 | 1994 |
| Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome … C Dombrowski, S Levesque, ML Morel, P Rouillard, K Morgan, ... Human Molecular Genetics 11 (4), 371-378, 2002 | 357 | 2002 |
| Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis JBJ Van Meurs, TA Trikalinos, SH Ralston, S Balcells, ML Brandi, ... Jama 299 (11), 1277-1290, 2008 | 320 | 2008 |
| The fragile X mental retardation protein is associated with ribosomes EW Khandjian, F Corbin, S Woerly, F Rousseau Nature genetics 12 (1), 91-93, 1996 | 320 | 1996 |
| The fragile X mental retardation protein is associated with poly (A)+ mRNA in actively translating polyribosomes F Corbin, M Bouillon, A Fortin, S Morin, F Rousseau, EW Khandjian Human molecular genetics 6 (9), 1465-1472, 1997 | 308 | 1997 |
| FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ... The American Journal of Human Genetics 94 (6), 809-817, 2014 | 288 | 2014 |
| Combining biochemical and ultrasonographic markers in predicting preeclampsia: a systematic review Y Giguere, M Charland, E Bujold, N Bernard, S Grenier, F Rousseau, ... Clinical chemistry 56 (3), 361-375, 2010 | 232 | 2010 |
| Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island D Heitz, F Rousseau, D Devys, S Saccone, H Abderrahim, D Le Paslier, ... Science 251 (4998), 1236-1239, 1991 | 221 | 1991 |
| Reduced Seminal Parameters Associated With Environmental DDT Exposure and p,p′‐DDE Concentrations in Men in Chiapas, Mexico: A Cross‐Sectional Study C De Jager, P Farias, A Barraza‐Villarreal, MH Avila, P Ayotte, E Dewailly, ... Journal of andrology 27 (1), 16-27, 2006 | 219 | 2006 |
| Germline RECQL mutations are associated with breast cancer susceptibility C Cybulski, J Carrot-Zhang, W Kluźniak, B Rivera, A Kashyap, ... Nature genetics 47 (6), 643-646, 2015 | 216 | 2015 |
| Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1) F Rousseau, V El Ghouzzi, AL Delezoide, L Legeai-Mallet, M Le Merrer, ... Human molecular genetics 5 (4), 509-512, 1996 | 212 | 1996 |
| A polymorphic autoregulatory hormone response element in the human estrogen-related receptor α (ERRα) promoter dictates peroxisome proliferator-activated receptor γ coactivator … J Laganiere, GB Tremblay, CR Dufour, S Giroux, F Rousseau, V Giguere Journal of Biological Chemistry 279 (18), 18504-18510, 2004 | 209 | 2004 |
| Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development D Devys, V Biancalana, F Rousseau, J Boue, JL Mandel, I Oberle American journal of medical genetics 43 (1‐2), 208-216, 1992 | 200 | 1992 |
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUכתובת אימייל מאומתת בדומיין igbmc.fr
