1. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. Issue 11 (1st November 2001) Authors: Amaral, Margarida D; Pacheco, Paula; Beck, Sebastian; Farinha, Carlos M; Penque, Deborah; Nogueira, Paulo; Barreto, Celeste; Lopes, Beatriz; Casals, Teresa; Dapena, Javier; Gartner, Silvia; Vásquez, Carlos; Pérez-Frías, Javier; Olveira, Casilda; Cabanas, Rodrigo; Estivill, Xavier; Tzetis, Maria; ... Journal: Journal of medical genetics Issue: Volume 38:Issue 11(2001) Page Start: 777 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Development of a core outcome set for congenital pulmonary airway malformations: study protocol of an international Delphi survey. Issue 4 (12th April 2021) Authors: Hermelijn, Sergei; Kersten, Casper; Mullassery, Dhanya; Muthialu, Nagarajan; Cobanoglu, Nazan; Gartner, Silvia; Bagolan, Pietro; Mesas Burgos, Carmen; Sgro, Alberto; Heyman, Stijn; Till, Holger; Suominen, Janne; Schurink, Maarten; Desender, Liesbeth; Losty, Paul; Ertresvag, Kjetil; Tiddens, Harm ... Other Names: author non-byline.; Hermelijn S.M. author non-byline.; Kersten C.M. author non-byline.; Schnater J.M. author non-byline.; Wijnen R.M.H. author non-byline.; Tiddens H.A.W.M. author non-byline.; Cochius S.C.M. author non-byline.; Suominen J. author non-byline.; Pakarinen M. author non-byline.; Mar... Journal: BMJ open Issue: Volume 11:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation. (February 2022) Authors: Mondejar-Lopez, Pedro; Zolin, Anna; Garcia-Marcos, Patricia W.; Pastor-Vivero, Mª Dolores; Rosa-Silvestre, Maria; de Asis Sanchez-Martinez, Francisco; Salvatore, Donatello; Cimino, Giuseppe; Majo, Fabio; Sole-Jover, Amparo; Asensio de la Cruz, Oscar; Calderazzo, Maria Adelaide; Pizzamiglio, Giova... Journal: Respiratory medicine Issue: Volume 192(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. How abnormal is the normal? Clinical characteristics of CF patients with normal FEV1. Issue 7 (26th March 2021) Authors: Cohen‐Cymberknoh, Malena; Ben Meir, Elad; Gartner, Silvia; Reiter, Joel; Spangenberg, Angeles; Garriga, Laura; Eisenstadt, Iris; Israeli, Tomer; Tsabari, Reuven; Shoseyov, David; Gileles‐Hillel, Alex; Breuer, Oded; Simanovsky, Natalia; Kerem, Eitan Journal: Pediatric pulmonology Issue: Volume 56:Issue 7(2021) Page Start: 2007 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of COVID-19 on people with cystic fibrosis. Issue 5 (May 2020) Authors: Colombo, Carla; Burgel, Pierre-Régis; Gartner, Silvia; van Koningsbruggen-Rietschel, Silke; Naehrlich, Lutz; Sermet-Gaudelus, Isabelle; Southern, Kevin W Journal: Lancet Issue: Volume 8:Issue 5(2020) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey. (August 2020) Authors: Mondejar-Lopez, Pedro; Quintana-Gallego, Esther; Giron-Moreno, Rosa M.; Cortell-Aznar, Isidoro; Ruiz de Valbuena-Maiz, Marta; Diab-Caceres, Layla; Prados-Sanchez, Concepcion; Alvarez-Fernandez, Antonio; Garcia-Marcos, Patricia W.; Peñalver-Mellado, Carlos; Pastor-Vivero, M. Dolores; Olveira, Casi... Journal: Respiratory medicine Issue: Volume 170(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Long-term safety and efficacy of tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study. Issue 7 (July 2021) Authors: Flume, Patrick A; Biner, Reta Fischer; Downey, Damian G; Brown, Cynthia; Jain, Manu; Fischer, Rainald; De Boeck, Kris; Sawicki, Gregory S; Chang, Philip; Paz-Diaz, Hildegarde; Rubin, Jaime L; Yang, Yoojung; Hu, Xingdi; Pasta, David J; Millar, Stefanie J; Campbell, Daniel; Wang, Xin; Ahluwalia, Ne... Journal: Lancet Issue: Volume 9:Issue 7(2021) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Management of pulmonary exacerbations in cystic fibrosis: still an unmet medical need in clinical practice. (April 2015) Authors: Justicia, José Luis; Solé, Amparo; Quintana-Gallego, Esther; Gartner, Silvia; de Gracia, Javier; Prados, Concepción; Máiz, Luis Journal: Expert review of respiratory medicine Issue: Volume 9:Number 2(2015) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The effect of inhaled hypertonic saline on lung structure in children aged 3–6 years with cystic fibrosis (SHIP-CT): a multicentre, randomised, double-blind, controlled trial. Issue 7 (July 2022) Authors: Tiddens, Harm A W M; Chen, Yuxin; Andrinopoulou, Eleni-Rosalina; Davis, Stephanie D; Rosenfeld, Margaret; Ratjen, Felix; Kronmal, Richard A; Hinckley Stukovsky, Karen D; Dasiewicz, Alison; Stick, Stephen Michael; Andrinopoulou, Eleni-Rosalina; Anthony, Margaret M.; Au, Jacky; Belessis, Yvonne; Bo... Journal: Lancet Issue: Volume 10:Issue 7(2022) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis. Issue 3 (10th December 2018) Authors: Clarke, Luka A.; Awatade, Nikhil T.; Felício, Veronica M.; Silva, Iris A.; Calucho, Maite; Pereira, Luisa; Azevedo, Pilar; Cavaco, José; Barreto, Celeste; Bertuzzo, Carmen; Gartner, Silvia; Beekman, Jeffrey; Amaral, Margarida D. Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗