Cystic fibrosis: terminology and diagnostic algorithms

nork De Boeck, K, Wilschanski, M, Castellani, C, Taylor, C, Cuppens, H, Dodge, J, Sinaasappel, M
Argitaratua 2006

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

nork Ruiz, J C, Cuppens, H, Legius, E, Fryns, J P, Glover, T, Marynen, P, Cassiman, J J
Argitaratua 1995

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

nork Cuppens, H, Marynen, P, Berghe, H Van den, Cassiman, J J, Boeck, C De, Eggermont, E, Baets, F De
Argitaratua 1990

Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype

nork Yarden, J, Radojkovic, D, De Boeck, K, Macek, M, Zemkova, D, Vavrova, V, Vlietinck, R, Cassiman, J, Cuppens, H
Argitaratua 2004

Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype

nork Yarden, J, Radojkovic, D, De Boeck, K, Macek, M, Zemkova, D, Vavrova, V, Vlietinck, R, Cassiman, J, Cuppens, H
Argitaratua 2005

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutati...

nork Cuppens, H, Lin, W, Jaspers, M, Costes, B, Teng, H, Vankeerberghen, A, Jorissen, M, Droogmans, G, Reynaert, I, Goossens, M, Nilius, B, Cassiman, J J
Argitaratua 1998

Art meets science: The Cosmopolitan Chicken Research Project

nork Stinckens, A., Vereijken, A., Ons, E., Konings, P., Van As, P., Cuppens, H., Moreau, Y., Sakai, R., Aerts, J., Goddeeris, B., Buys, N., Vanmechelen, K., Cassiman, J.J.
Argitaratua izan da Facts Views Vis Obgyn (2015)

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

nork Castellani, C., Cuppens, H., Macek, M., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., Elborn, J.S.
Argitaratua 2008

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

nork Amaral, M., Pacheco, P., Beck, S., Farinha, C., Penque, D., Nogueira, P., Barreto, C., Lopes, B., Casals, T., Dapena, J., Gartner, S., Vasquez, C., Perez-Frias, J., Olveira, C., Cabanas, R., Estivill, X., Tzetis, M., Kanavakis, E., Doudounakis, S., Dork, T., Tummler, B., Girodon-Boulandet, E., Cazeneuve, C., Goossens, M., Blayau, M., Verlingue, C., Vieira, I., Ferec, C., Claustres, M., Georges, M. d., Clavel, C., Birembaut, P., Hubert, D., Bienvenu, T., Adoun, M., Chomel, J., De Boeck, K., Cuppens, H., Lavinha, J.
Argitaratua 2001