Software and database for the analysis of mutations in the human LDL receptor gene.

Por Varret, M, Rabès, J P, Collod-Béroud, G, Junien, C, Boileau, C, Béroud, C
Publicado em 1997

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Por Lavedan, C, Hofmann-Radvanyi, H, Shelbourne, P, Rabes, J P, Duros, C, Savoy, D, Dehaupas, I, Luce, S, Johnson, K, Junien, C
Publicado em 1993

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Por Lavedan, C, Hofmann-Radvanyi, H, Boileau, C, Bonaïti-Pellié, C, Savoy, D, Shelbourne, P, Duros, C, Rabes, J P, Dehaupas, I, Luce, S
Publicado em 1994

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.

Por Varret, M, Rabés, J P, Thiart, R, Kotze, M J, Baron, H, Cenarro, A, Descamps, O, Ebhardt, M, Hondelijn, J C, Kostner, G M, Miyake, Y, Pocovi, M, Schmidt, H, Schuster, H, Stuhrmann, M, Yamamura, T, Junien, C, Béroud, C, Boileau, C
Publicado em 1998

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

Por Varret, M, Rabès, J P, Saint-Jore, B, Cenarro, A, Marinoni, J C, Civeira, F, Devillers, M, Krempf, M, Coulon, M, Thiart, R, Kotze, M J, Schmidt, H, Buzzi, J C, Kostner, G M, Bertolini, S, Pocovi, M, Rosa, A, Farnier, M, Martinez, M, Junien, C, Boileau, C
Publicado em 1999