Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Anne Munck"'
Autor:
Anne Munck, Daria O Berger, Kevin W Southern, Carla Carducci, Karin M de Winter-de Groot, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben, Sabine Renner, Max Zeyda, Elke de Wachter, Luc Regal, Felix Votava, Andrea Holubova, Marianne Skov, Tessa Morgan, Paul Bregeaut, Loretta O'Grady, Ines Bucci, Stefano Pantano, Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, Fiorella Battistini, Antonio Angeloni, Giuseppe Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura E Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elina Aleksejeva, Dita Gaidule-Logina, Stoika Fustik, Violeta Anastasovska, Marelle Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, Katarzyna Zybert, Mariusz Oltarzewski, Laura Vilarinho, Victoria Sherman, Elena Kondratyeva, Sarah Smith, Gordana Vilotijevic Dautovic, Maria Knapkova, Zuzana Mydlova, Rosa Mª López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva SL Pedersen, Ugur Ozcelik, Bulent Karadag, Halyna Makukh, Moat Stuart
European CF Society Neonatal Screening Working Group (ECFS NSWG): Sabine Renner , Max Zeyda , Elke de Wachter , Luc Regal , Felix Votava, Andrea Holubova, Marianne Skov , Tessa Morgan, Paul Bregeaut , Loretta O'Grady, Ines Bucci , Stefano Pantano , S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1280e533a22801c54cb7ddf56c1b22d
https://hdl.handle.net/11424/290369
https://hdl.handle.net/11424/290369
Autor:
Jürg Barben, Nataliya Kashirskaya, Anne Munck, Kevin W Southern, Olaf Sommerburg, Barry Linnane, Dorota Sands, Silvia Gartner, Sarah Mayell, Marijke Proesmans, Carlo Castellani, Karin M. de Winter-de Groot
Publikováno v:
Journal of Cystic Fibrosis. 20:820-823
Autor:
Samia Hamouda, Sondess Hadj Fredj, Taieb Messaoud, Virginie Scotet, Khadija Boussetta, Anne Munck
Publikováno v:
Pediatric pulmonologyREFERENCES. 57(10)
Tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for minimal function CFTR mutations
Autor:
Daniel Campbell, Caroline A. Owen, H. Ellemunter, Neil Ahluwalia, Linda T Wang, Claire E. Wainwright, Anne Munck, Eitan Kerem
Publikováno v:
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2020, 19, pp.962-968. ⟨10.1016/j.jcf.2020.04.015⟩
Journal of Cystic Fibrosis, Elsevier, 2020, 19, pp.962-968. ⟨10.1016/j.jcf.2020.04.015⟩
Background Tezacaftor/ivacaftor is a CFTR modulator approved to treat people with cystic fibrosis (pwCF) who are homozygous (F/F) or heterozygous for the F508del-CFTR mutation and a residual function mutation (F/RF). This randomized, double-blind, pl
Publikováno v:
Pediatric Pulmonology. 55:918-928
OBJECTIVE To characterize the phenotypic expression of children with conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive inconclusive diagnosis (CFSPID) designation after positive newborn screening, reassign labeli
Autor:
Clement L. Ren, Silvia Gartner, Kevin W Southern, Danieli Salinas, Jane C. Davies, Jürg Barben, Sarah Mayell, Anne Munck, Philip M. Farrell, Susanna A. McColley, Carlo Castellani, V. Winters, Jane Murphy
Publikováno v:
JOURNAL OF CYSTIC FIBROSIS
Autor:
John Tsanakas, I. Asherova, Olga Bede, Melinda Solomon, Gerhild Angyalosi, Jutta Hammermann, Katalin Bolbás, Robert Maykut, Michael Fayon, Elena Chertok, Martha L McKinney, Nipa Alon, Ferenc Gonczi, Felix Ratjen, Vladimir Bulatov, Anne Munck, Carla Colombo, Essam Gouda, Alexander Moeller
Publikováno v:
Journal of Cystic Fibrosis. 18:78-85
Antibiotic eradication treatment is the standard-of-care for cystic fibrosis (CF) patients with early Pseudomonas aeruginosa (Pa)-infection; however, evidence from placebo-controlled trials is limited.This double-blind, placebo-controlled trial rando
Autor:
Marlène Murris-Espin, Christophe Marguet, Anne Munck, Michel Abely, Harriet Corvol, Philippe Reix, Laurent Mely, Clémence Martin, Tiphaine Biouhee, Julie Macey, Michele Porzio, A. Prevotat, Stéphanie Bui, Dominique Hubert, Isabelle Sermet-Gaudelus, Jennifer Da Silva, Clémence Dehillotte, Isabelle Durieu, Lydie Lemonnier, Raphaël Chiron, Pierre-Régis Burgel, Jean-Louis Paillasseur
Publikováno v:
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, 2020, 20 (2), pp.220-227. ⟨10.1016/j.jcf.2020.06.012⟩
Journal of Cystic Fibrosis, Elsevier, 2020, ⟨10.1016/j.jcf.2020.06.012⟩
Journal of Cystic Fibrosis, 2020, 20 (2), pp.220-227. ⟨10.1016/j.jcf.2020.06.012⟩
Journal of Cystic Fibrosis, Elsevier, 2020, ⟨10.1016/j.jcf.2020.06.012⟩
International audience; Background: Phase 3 trials have demonstrated the safety and efficacy of lumacaftor-ivacaftor (LUMA-IVA) in patients with cystic fibrosis (CF) homozygous for the Phe508del CFTR mutation and percent predicted forced expiratory v
Autor:
Anne Munck
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 19 (2020)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-rel
Autor:
Marie-Pierre Audrézet, Anne Bergougnoux, Thierry Bienvenu, Anne Munck, E. Girodon, Isabelle Sermet-Gaudelus, A. Boussaroque, Claude Férec, Virginie Scotet, Maureen Lopez, C. Raynal
Publikováno v:
Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, 2020, 19, pp.949-954. ⟨10.1016/j.jcf.2020.03.019⟩
Journal of Cystic Fibrosis, Elsevier, 2020, 19, pp.949-954. ⟨10.1016/j.jcf.2020.03.019⟩
Journal of Cystic Fibrosis, 2020, 19, pp.949-954. ⟨10.1016/j.jcf.2020.03.019⟩
Journal of Cystic Fibrosis, Elsevier, 2020, 19, pp.949-954. ⟨10.1016/j.jcf.2020.03.019⟩
International audience; Background: Major issues of newborn screening (NBS) for CF are the assessment of disease liability of variants and of the penetrance of clinical CF, notably in inconclusive diagnosis. The penetrance of CF is defined as the ris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3965d13134c32107e655e0172a29982f
https://doi.org/10.1016/j.jcf.2020.03.019
https://doi.org/10.1016/j.jcf.2020.03.019