Recommendations for the classification of diseases as CFTR-related disorders

Autor: Bombieri, C., Claustres, M., De Boeck, K., Derichs, N., Dodge, J., Girodon, E., Sermet, I., Schwarz, M., Tzetis, M., Wilschanski, M., Bareil, C., Bilton, D., Castellani, C., Cuppens, H., Cutting, G.R., Drevínek, P., Farrell, P., Elborn, J.S., Jarvi, K., Kerem, B., Kerem, E., Knowles, M., Macek, M., Jr, Munck, A., Radojkovic, D., Seia, M., Sheppard, D.N., Southern, K.W., Stuhrmann, M., Tullis, E., Zielenski, J., Pignatti, P.F., Ferec, C.

Publikováno v: In Journal of Cystic Fibrosis 2011 10 Supplement 2:S86-S102

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

Autor: Castellani, C., Cuppens, H., Macek, M., Jr., 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.

Publikováno v: In Journal of Cystic Fibrosis 2008 7(3):179-196

P024 Compound heterozygotes bearing the CFTRdup22 in trans with another cystic fibrosis-causing variant have a generally milder course of cystic fibrosis: analysis of 6 Czech cystic fibrosis cases

Autor: Holubová, A., Libik, M., Dvořáková, L., Peldová, P., Skalická, V., Bartošová, J., Doušová, T., Grandcourtová, A., Fila, L., Holčíková, A., Macek, M., Jr.

Publikováno v: In Journal of Cystic Fibrosis June 2023 22 Supplement 2:S71-S71

The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes

Autor: Jackson, L., Cornel, M., Paneque, M., Stefansdottir, V., Turchetti, D., Curtisova, V., Lunt, P. W., Campos, M., Kent, A., Macek, M., Jr., Houwink, E., O'Connor, A., Skirton, H.

Publikováno v: European Journal of Human Genetics, 26, 71-72. Nature Publishing Group
Jackson, L, Cornel, M, Paneque, M, Stefansdottir, V, Turchetti, D, Curtisova, V, Lunt, P W, Campos, M, Kent, A, Macek, M J, Houwink, E, O'Connor, A & Skirton, H 2018, ' The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes ', European Journal of Human Genetics, vol. 26, pp. 71-72 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c14736423e9ea39508ef9c2a7ad489ae
https://research.vumc.nl/en/publications/7cc1a88a-3f49-484e-a11d-ab9b70f63d49

Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)

Autor: Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, István, Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, B., Burzynska, B., Carracedo, A., Cascorbi, I., Constantinou-Deltas, Constantinos D., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, D., Kučinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M., Jr., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R. H., Voskarides, Konstantinos, Wakil, S. M., Werk, A., del Zompo, M., Zukic, B., Katsila, T., Ta Michael Lee, M., Motsinger-Rief, A., Mc Leod, H. L., van der Spek, P. J., Patrinos, G. P.

Publikováno v: PLoS ONE

The thirty-Third author's name is spelled incorrectly. The correct name is: Jadranka Sertić. © 2017 Mizzi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::aed7f31b335d222868eb336843d3b117
http://gnosis.library.ucy.ac.cy/handle/7/53251