Demethylation of specific sites in the 5' region of the inactive X-linked human phosphoglycerate kinase gene correlates with the appearance of nuclease sensitivity and gene express...

Por Hansen, R S, Ellis, N A, Gartler, S M
Publicado em 1988

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.

Por German, J, Roe, A M, Leppert, M F, Ellis, N A
Publicado em 1994

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

Por Ellis, N A, Ciocci, S, Proytcheva, M, Lennon, D, Groden, J, German, J
Publicado em 1998

Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.

Por Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J.
Publicado em 1994

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

Por Ellis, N A, Lennon, D J, Proytcheva, M, Alhadeff, B, Henderson, E E, German, J
Publicado em 1995

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Por Theodoratou, E, Campbell, H, Tenesa, A, Houlston, R, Webb, E, Lubbe, S, Broderick, P, Gallinger, S, Croitoru, E M, Jenkins, M A, Win, A K, Cleary, S P, Koessler, T, Pharoah, P D, Küry, S, Bézieau, S, Buecher, B, Ellis, N A, Peterlongo, P, Offit, K, Aaltonen, L A, Enholm, S, Lindblom, A, Zhou, X-L, Tomlinson, I P, Moreno, V, Blanco, I, Capellà, G, Barnetson, R, Porteous, M E, Dunlop, M G, Farrington, S M
Publicado em 2010

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