François Rousseau

发表

High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis

E. W. Khandjian, P. Rouillard, R. Rehel, 1994, Human mutation.

The unstable and methylatable mutations causing the fragile X syndrome

J. Mandel, D. Heitz, François Rousseau, 1992, Human Mutation.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Daniel L. Koller, D. Kiel, A. Uitterlinden, 2012, Nature Genetics.

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

J. Mandel, A. Hanauer, F. Rousseau, 1991, Science.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

N. Tommerup, J. Mandel, V. Biancalana, 1991, The New England journal of medicine.

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

B. Oostra, A. Smits, E. Graaff, 1995, Human molecular genetics.

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Daniel L. Koller, D. Kiel, A. LaCroix, 2012, Nature Genetics.

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

F. Rousseau, V. D. Der Kaloustian, L. Robb, 1994, Human molecular genetics.

Edinburgh Research Explorer Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

D. Kiel, T. Trikalinos, P. Lips, 2012 .

The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes.

É. Khandjian, S. Morin, F. Rousseau, 1997, Human molecular genetics.

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

C. Greenwood, A. Mes-Masson, W. Foulkes, 2015, Clinical genetics.

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

S. Lévesque, F. Rousseau, K. Morgan, 2002, Human molecular genetics.

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis.

É. Khandjian, J. Mandel, S. Tremblay, 1998, Human molecular genetics.

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

W. Brown, B. Oostra, F. Rousseau, 1993, Journal of medical genetics.