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

著者: Mateu, Eva, Calafell, Francesc, Ramos, Maria Dolors, Casals, Teresa, Bertranpetit, Jaume
出版事項 2002

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

著者: Masvidal, Laia, Igreja, Susana, Ramos, Maria D, Alvarez, Antoni, de Gracia, Javier, Ramalho, Anabela, Amaral, Margarida D, Larriba, Sara, Casals, Teresa
出版事項 2014

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

著者: 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.
出版事項 2010

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

著者: 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
出版事項 2009

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

著者: 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
出版事項 2010

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

著者: 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.
出版事項 2004