Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified?

Bằng Mateu, Eva, Calafell, Francesc, Ramos, Maria Dolors, Casals, Teresa, Bertranpetit, Jaume
Được phát hành 2002

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

Bằng Masvidal, Laia, Igreja, Susana, Ramos, Maria D, Alvarez, Antoni, de Gracia, Javier, Ramalho, Anabela, Amaral, Margarida D, Larriba, Sara, Casals, Teresa
Được phát hành 2014

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens

Bằng Havasi, Viktoria, Rowe, Steven M., Kolettis, Peter N., Dayangac, Didem, Şahin, Ahmet, Grangeia, Ana, Carvalho, Filipa, Barros, Alberto, Sousa, Mario, Bassas, Lluis, Casals, Teresa, Sorscher, Eric J.
Được phát hành 2010

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Bằng Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan, Pignatti, Pier-Franco, Scheffer, Hans, Schwartz, Marianne, Witt, Michal, Schwarz, Martin, Girodon, Emmanuelle
Được phát hành 2009

Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci

Bằng Quemener, Sylvia, Chen, Jian-Min, Chuzhanova, Nadia, Bénech, Caroline, Casals, Teresa, Macek, Milan, Bienvenu, Thierry, McDevitt, Trudi, Farrell, Philip M., Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Cutting, Garry R., Stenson, Peter D., Giteau, Karine, Audrézet, Marie-Pierre, Cooper, David N., Férec, Claude
Được phát hành 2010

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Bằng Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Được phát hành 2004