Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Por Puck, J M, Pepper, A E, Bédard, P M, Laframboise, R
Publicado em 1995

Novel PKU mutation on haplotype 2 in French-Canadians.

Por John, S W, Rozen, R, Laframboise, R, Laberge, C, Scriver, C R
Publicado em 1989

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

Por John, S W, Rozen, R, Scriver, C R, Laframboise, R, Laberge, C
Publicado em 1990

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

Por Rozen, R., Mascisch, A., Lambert, M., Laframboise, R., Scriver, C. R.
Publicado em 1994

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Por Phaneuf, D, Lambert, M, Laframboise, R, Mitchell, G, Lettre, F, Tanguay, R M
Publicado em 1992

11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases.

Por Jotterand, V, Boisjoly, H M, Harnois, C, Bigonesse, P, Laframboise, R, Gagné, R, St-Pierre, A
Publicado em 1990

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Por Merante, F, Petrova-Benedict, R, MacKay, N, Mitchell, G, Lambert, M, Morin, C, De Braekeleer, M, Laframboise, R, Gagné, R, Robinson, B H
Publicado em 1993

Hereditary Nonpolyposis Colon Cancer: Analysis of Linkage to 2p15-16 Places the COCA1 Locus Telomeric to D2S123 and Reveals Genetic Heterogeneity in Seven Canadian Families

Por Green, R. C., Narod, S. A., Morasse, J., Young, T.-L., Cox, J., Fitzgerald, G. W. N., Tonin, P., Ginsburg, O., Miller, S., Jothy, S., Poitras, P., Laframboise, R., Routhier, G., Plante, M., Morissette, J., Weissenbach, J., Khandjian, E. W., Rousseau, F.
Publicado em 1994