The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men

Por Kotar, K, Hamel, N, Thiffault, I, Foulkes, W
Publicado em 2003

The HNPCC associated MSH2*1906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population

Por Sun, S, Greenwood, C, Thiffault, I, Hamel, N, Chong, G, Foulkes, W
Publicado em 2005

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1

Por Hutter, P, Wijnen, J, Rey-Berthod, C, Thiffault, I, Verkuijlen, P, Farber, D, Hamel, N, Bapat, B, Thibodeau, S, Burn, J, Wu, J, MacNamara, E, Heinimann, K, Chong, G, Foulkes, W
Publicado em 2002

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

Por Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, V A, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, A K, MacNamara, E, Sart, D Du, Chong, G, Foulkes, W D
Publicado em 2004

MAGEL2-Related Disorders: A study and case series.

Por Patak, J, Gilfert, J, Byler, M, Neerukonda, V, Thiffault, I, Cross, LA, Amudhavalli, SM, Pacio-Miguez, M, Palomares-Bralo, M, Garcia-Minaur, S, Santos-Simarro, F, Powis, Z, Alcaraz, W, Tang, S, Jurgens, J, Barry, B, England, E, Engle, EC, Hess, J, Lebel, RR
Publicado no Clin Genet (2019)

The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

Por Foulkes, W. D., Thiffault, I., Gruber, S. B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C. M. T., Bonner, J. D., Nafa, K., Walsh, T., Marcus, V., Tomsho, L., Gebert, J., Macrae, F. A., Gaff, C. L., Paillerets, B. Bressac-de, Gregersen, P. K., Weitzel, J. N., Gordon, P. H., MacNamara, E., King, M.-C., Hampel, H., de la Chapelle, A., Boyd, J., Offit, K., Rennert, G., Chong, G., Ellis, N. A.
Publicado em 2002

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Por Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Publicado no Acta Neuropathol (2019)