Works by Castellani, Carlo

Results: 52
    1

    When and how ruling out cystic fibrosis in adult patients with bronchiectasis.

    Published in:
    Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0142-7
    By:
    • Gramegna, Andrea;
    • Aliberti, Stefano;
    • Seia, Manuela;
    • Porcaro, Luigi;
    • Bianchi, Vera;
    • Castellani, Carlo;
    • Melotti, Paola;
    • Sorio, Claudio;
    • Consalvo, Enza;
    • Franceschi, Elisa;
    • Amati, Francesco;
    • Contarini, Martina;
    • Gaffuri, Michele;
    • Roncoroni, Luca;
    • Vigone, Barbara;
    • Bellofiore, Angela;
    • Del Monaco, Cesare;
    • Oriano, Martina;
    • Terranova, Leonardo;
    • Patria, Maria Francesca
    Publication type:
    Article
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    Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.

    Published in:
    2019
    By:
    • McCague, Allison F;
    • Raraigh, Karen S;
    • Pellicore, Matthew J;
    • Davis-Marcisak, Emily F;
    • Evans, Taylor A;
    • Han, Sangwoo T;
    • Lu, Zhongzhou;
    • Joynt, Anya T;
    • Sharma, Neeraj;
    • Castellani, Carlo;
    • Collaco, Joseph M;
    • Corey, Mary;
    • Lewis, Michelle H;
    • Penland, Chris M;
    • Rommens, Johanna M;
    • Stephenson, Anne L;
    • Sosnay, Patrick R;
    • Cutting, Garry R
    Publication type:
    journal article
    10

    CADORmed: a tool for internal dose assessment.

    Published in:
    Radiation Protection Dosimetry, 2023, v. 199, n. 8/9, p. 922, doi. 10.1093/rpd/ncad093
    By:
    • Landry, Bernard;
    • Breustedt, Bastian;
    • Castellani, Carlo Maria;
    • Lopez, Maria Antonia;
    • Sierra, Inmaculada;
    • Navarro, Juan Francisco;
    • Roberts, Gareth
    Publication type:
    Article
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    A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.

    Published in:
    Nature Genetics, 2006, v. 38, n. 6, p. 668, doi. 10.1038/ng1797
    By:
    • Witt, Heiko;
    • Sahin-Tóth, Miklós;
    • Landt, Olfert;
    • Jian-Min Chen;
    • Kähne, Thilo;
    • Drenth, Joost P. H.;
    • Kukor, Zoltán;
    • Szepessy, Edit;
    • Halangk, Walter;
    • Dahm, Stefan;
    • Rohde, Klaus;
    • Schulz, Hans-Ulrich;
    • Le Maréchal, Cédric;
    • Akar, Nejat;
    • Ammann, Rudolf W.;
    • Truninger, Kaspar;
    • Bargetzi, Mario;
    • Bhatia, Eesh;
    • Castellani, Carlo;
    • Cavestro, Giulia Martina
    Publication type:
    Article
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    Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.

    Published in:
    Journal of Molecular Medicine, 2006, v. 84, n. 12, p. 1015, doi. 10.1007/s00109-006-0096-7
    By:
    • Treiber, Matthias;
    • Schulz, Hans-Ulrich;
    • Landt, Olfert;
    • Drenth, Joost;
    • Castellani, Carlo;
    • Real, Francisco;
    • Akar, Nejat;
    • Ammann, Rudolf;
    • Bargetzi, Mario;
    • Bhatia, Eesh;
    • Demaine, Andrew;
    • Battagia, Cinzia;
    • Kingsnorth, Andrew;
    • O’Reilly, Derek;
    • Truninger, Kaspar;
    • Koudova, Monika;
    • Spicak, Julius;
    • Cerny, Milos;
    • Menzel, Hans-Jürgen;
    • Moral, Pedro
    Publication type:
    Article
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    Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

    Published in:
    Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011
    By:
    • Azad, Abul Kalam;
    • Rauh, Robert;
    • Vermeulen, François;
    • Jaspers, Martine;
    • Korbmacher, Judit;
    • Boissier, Brigitte;
    • Bassinet, Laurence;
    • Fichou, Yann;
    • Georges, Marie des;
    • Stanke, Frauke;
    • De Boeck, Kris;
    • Dupont, Lieven;
    • Balaščáková, Miroslava;
    • Hjelte, Lena;
    • Lebecque, Patrick;
    • Radojkovic, Dragica;
    • Castellani, Carlo;
    • Schwartz, Marianne;
    • Stuhrmann, Manfred;
    • Schwarz, Martin
    Publication type:
    Article
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    Cystic fibrosis: a clinical view.

    Published in:
    Cellular & Molecular Life Sciences, 2017, v. 74, n. 1, p. 129, doi. 10.1007/s00018-016-2393-9
    By:
    • Castellani, Carlo;
    • Assael, Baroukh
    Publication type:
    Article
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    The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3175, doi. 10.3390/ijms23063175
    By:
    • Sondo, Elvira;
    • Cresta, Federico;
    • Pastorino, Cristina;
    • Tomati, Valeria;
    • Capurro, Valeria;
    • Pesce, Emanuela;
    • Lena, Mariateresa;
    • Iacomino, Michele;
    • Baffico, Ave Maria;
    • Coviello, Domenico;
    • Bandiera, Tiziano;
    • Zara, Federico;
    • Galietta, Luis J. V.;
    • Bocciardi, Renata;
    • Castellani, Carlo;
    • Pedemonte, Nicoletta
    Publication type:
    Article
    32

    Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 3928, doi. 10.3390/ijms22083928
    By:
    • Pedrazzi, Marco;
    • Vercellone, Silvia;
    • Barberis, Elettra;
    • Capraro, Michela;
    • De Tullio, Roberta;
    • Cresta, Federico;
    • Casciaro, Rosaria;
    • Castellani, Carlo;
    • Patrone, Mauro;
    • Marengo, Emilio;
    • Lecca, Paola;
    • Melotti, Paola;
    • Sorio, Claudio;
    • Manfredi, Marcello;
    • Averna, Monica
    Publication type:
    Article
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    One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study.

    Published in:
    Life (2075-1729), 2024, v. 14, n. 10, p. 1309, doi. 10.3390/life14101309
    By:
    • Bassi, Marta;
    • Strati, Marina Francesca;
    • Spiandorello, Gaia;
    • Scalas, Marta;
    • Cresta, Federico;
    • Calevo, Maria Grazia;
    • d'Annunzio, Giuseppe;
    • Castellani, Carlo;
    • Minuto, Nicola;
    • Maghnie, Mohamad;
    • Casciaro, Rosaria
    Publication type:
    Article
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    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136
    By:
    • 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
    Publication type:
    Article
    37

    Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590
    By:
    • Férec, Claude;
    • Casals, Teresa;
    • Chuzhanova, Nadia;
    • Macek Jr., Milan;
    • Bienvenu, Thierry;
    • Holubova, Andrea;
    • King, Caitriona;
    • McDevitt, Trudi;
    • Castellani, Carlo;
    • Farrell, Philip M;
    • Sheridan, Molly;
    • Pantaleo, Sarah-Jane;
    • Loumi, Ourida;
    • Messaoud, Taieb;
    • Cuppens, Harry;
    • Torricelli, Francesca;
    • Cutting, Garry R;
    • Williamson, Robert;
    • Ramos, Maria Jesus Alonso;
    • Pignatti, Pier Franco
    Publication type:
    Article
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    Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators.

    Published in:
    Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1494327
    By:
    • Tomati, Valeria;
    • Capurro, Valeria;
    • Pesce, Emanuela;
    • Pastorino, Cristina;
    • Sondo, Elvira;
    • Lena, Mariateresa;
    • Borrelli, Anna;
    • Cresta, Federico;
    • Pantano, Stefano;
    • Collini, Francesca;
    • Ripani, Pietro;
    • Terlizzi, Vito;
    • Fevola, Cristina;
    • Costa, Stefano;
    • Lucanto, Maria Cristina;
    • Zara, Federico;
    • Bandiera, Tiziano;
    • Bocciardi, Renata;
    • Castellani, Carlo;
    • Galietta, Luis J. V.
    Publication type:
    Article
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    International perspectives on the implementation of reproductive carrier screening.

    Published in:
    2020
    By:
    • Delatycki, Martin B.;
    • Alkuraya, Fowzan;
    • Archibald, Alison;
    • Castellani, Carlo;
    • Cornel, Martina;
    • Grody, Wayne W.;
    • Henneman, Lidewij;
    • Ioannides, Adonis S.;
    • Kirk, Edwin;
    • Laing, Nigel;
    • Lucassen, Anneke;
    • Massie, John;
    • Schuurmans, Juliette;
    • Thong, Meow‐Keong;
    • van Langen, Irene;
    • Zlotogora, Joël;
    • Thong, Meow-Keong
    Publication type:
    journal article
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    Genetic Modifiers of Liver Disease in Cystic Fibrosis.

    Published in:
    JAMA: Journal of the American Medical Association, 2009, v. 302, n. 10, p. 1076, doi. 10.1001/jama.2009.1295
    By:
    • Bartlett, Jaclyn R.;
    • Friedman, Kenneth J.;
    • Ling, Simon C.;
    • Pace, Rhonda G.;
    • Bell, Scott C.;
    • Bourke, Billy;
    • Castaldo, Giuseppe;
    • Castellani, Carlo;
    • Cipolli, Marco;
    • Colombo, Carla;
    • Colombo, John L.;
    • Debray, Dominique;
    • Fernandez, Adriana;
    • Lacaille, Florence;
    • Macek Jr., Milan;
    • Salvatore, Marion Rowland Francesco;
    • Taylor, Christopher J.;
    • Wainwright, Claire;
    • Wilschanski, Michael;
    • Zemková, Dana
    Publication type:
    Article
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    Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

    Published in:
    Nature Genetics, 2013, v. 45, n. 10, p. 1160, doi. 10.1038/ng.2745
    By:
    • Sosnay, Patrick R;
    • Siklosi, Karen R;
    • Van Goor, Fredrick;
    • Kaniecki, Kyle;
    • Yu, Haihui;
    • Sharma, Neeraj;
    • Ramalho, Anabela S;
    • Amaral, Margarida D;
    • Dorfman, Ruslan;
    • Zielenski, Julian;
    • Masica, David L;
    • Karchin, Rachel;
    • Millen, Linda;
    • Thomas, Philip J;
    • Patrinos, George P;
    • Corey, Mary;
    • Lewis, Michelle H;
    • Rommens, Johanna M;
    • Castellani, Carlo;
    • Penland, Christopher M
    Publication type:
    Article
    50

    Intraretinal changes in the presence of epiretinal traction.

    Published in:
    Graefe's Archive of Clinical & Experimental Ophthalmology, 2017, v. 255, n. 1, p. 31, doi. 10.1007/s00417-016-3413-z
    By:
    • Romano, Mario;
    • Cennamo, Gilda;
    • Amoroso, Francesca;
    • Montorio, Daniela;
    • Castellani, Carlo;
    • Reibaldi, Michele;
    • Cennamo, Giovanni
    Publication type:
    Article