Zobrazeno 1 - 10
of 395
pro vyhledávání: '"M. Assael"'
Autor:
Andrea Gramegna, Stefano Aliberti, Manuela Seia, Luigi Porcaro, Vera Bianchi, Carlo Castellani, Paola Melotti, Claudio Sorio, Enza Consalvo, Elisa Franceschi, Francesco Amati, Martina Contarini, Michele Gaffuri, Luca Roncoroni, Barbara Vigone, Angela Bellofiore, Cesare Del Monaco, Martina Oriano, Leonardo Terranova, Maria Francesca Patria, Paola Marchisio, Baroukh M. Assael, Francesco Blasi
Publikováno v:
Multidisciplinary Respiratory Medicine, Vol 13, Iss S1, Pp 21-27 (2018)
Abstract Background Bronchiectasis is the final result of different processes and most of the guidelines advocate for a careful evaluation of those etiologies which might be treated or might change patients’ management, including cystic fibrosis (C
Externí odkaz:
https://doaj.org/article/b2055cf41dda493bbc3d73ab18595f9d
Publikováno v:
ERJ Open Research, Vol 4, Iss 2 (2018)
Newborn screening (NBS) for cystic fibrosis (CF) has been gradually established in several countries, but scant data are available on its long-term effects on survival. Our objective was to evaluate the long-term effects of CF NBS on survival. 586 pa
Externí odkaz:
https://doaj.org/article/c9db0c7ddbe04bd7951a88345bd10924
Autor:
Sandra Perobelli, Franco Alessandrini, Giada Zoccatelli, Elena Nicolis, Alberto Beltramello, Baroukh M. Assael, Marco Cipolli
Publikováno v:
NeuroImage: Clinical, Vol 7, Iss C, Pp 721-731 (2015)
Shwachman–Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and
Externí odkaz:
https://doaj.org/article/5a35efe142774eccb020ec28ca1e5823
Autor:
Luisa Zanolla, Baroukh M. Assael, Shoma Dutt, Marco Cipolli, Kevin J. Gaskin, Ilaria Meneghelli, Donna Waters, Judith Fethney
Publikováno v:
Journal of Cystic Fibrosis. 19:455-459
The reported prevalence of portal hypertension (PH) in Cystic Fibrosis is variable, incidence rates rarely provided and the utility of liver function tests (LFT's) early in life to predict PH is questionable. The aims were to (1) determine PH prevale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd16f862d517211ad4bda3cf7a8784c7
https://doi.org/10.1016/j.jcf.2019.09.016
https://doi.org/10.1016/j.jcf.2019.09.016
Autor:
Ferenc Karpati, L.E. Jenkins, D.M. Cox, Yvonne Belessis, Carla Federica Bortoluzzi, L. Da Dalt, Baroukh M. Assael, Ciro D'Orazio, Stéphanie Bui, V. Švabe, J.C. Dubus, L. Honková, A. Jung, Tanja Pressler, M. Geerdink, Phil Robinson, C. Vazquez, Rosaria Casciaro, Valeria Raia, A.J.M. Reid, C. Mainguy, Daan Caudri, Antonella Tosco, S. Rovira, M.C. Cavicchi, Eleonora Pontello, O. Sepe, Stephen M. Stick, A. Tai, Silvia Gartner, Paolo Rossi, M. G. Myriam Hunink, Veronika Skalická, Harm A.W.M. Tiddens, C.R. Hansen, A. Möller, Emily Pintani, Karin M. de Winter-de Groot, A.S. Neri, E. Rietschel, André Schultz, F. De Gregorio, Marijke Proesmans, F. Bremont, Paul Robinson
Publikováno v:
Journal of Cystic Fibrosis, 19(4), 641-646. Elsevier
Background Recent standards of care mention chest radiography (CR) but not chest computed tomography (CT) in routine annual follow-up of children with cystic fibrosis (CF). To minimise radiation risk, CT or CR should only be performed if they impact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ebbc725b4af89aebcda619690db28c4
https://doi.org/10.1016/j.jcf.2019.08.005
https://doi.org/10.1016/j.jcf.2019.08.005
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 9, Iss 6, p e3638 (2021)
Plastic and Reconstructive Surgery Global Open
Plastic and Reconstructive Surgery Global Open
Introduction:. Machine learning (ML) is a set of models and methods that can detect patterns in vast amounts of data and use this information to perform various kinds of decision-making under uncertain conditions. This review explores the current rol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece3b8c2de4f1002f5a9f7b9ae68d309
http://hdl.handle.net/10044/1/89573
http://hdl.handle.net/10044/1/89573
Autor:
Agnieszka Grabska-Barwinska, Kyle R. Taylor, Žiga Avsec, Pushmeet Kohli, Daniel Visentin, John M. Jumper, David R. Kelley, Joseph R. Ledsam, Vikram Agarwal, Yannis M. Assael
Publikováno v:
Nature Methods
How noncoding DNA determines gene expression in different cell types is a major unsolved problem, and critical downstream applications in human genetics depend on improved solutions. Here, we report substantially improved gene expression prediction a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49ff44bafa5e6961f7e3193418ee0609
https://doi.org/10.1101/2021.04.07.438649
https://doi.org/10.1101/2021.04.07.438649
Autor:
Marie-Christine Vantyghem, Dominique Hubert, Andreas Claaß, Anne Munck, Doris Staab, Ute Staden, Helmut Teschler, Klaus-Michael Keller, Laurence Kessler, Horst Generlich, Guy-André Loeuille, Helen Mosnier-Pudar, Gabriela H. Thalhammer, Tanja Nickolay, Matthias V. Kopp, Nicole Prinz, Gérard Lenoir, Jürgen Hautz, Irmgard Eichler, Rüdiger Szczepanski, R Serreau, Jean-Jacques Robert, Hans-Georg Bresser, Birgit Schilling, Baroukh M. Assael, Martin Stern, Manfred Ballmann, Christina Smaczny, Egbert Herting, Matthias Wiebel, Lutz Naehrlich, Uwe Mellies, Hans-Georg Posselt, Ernst Rietschel, Thomas Biedermann, Thomas Köhnlein, Ernst-Hinrich Ballke, Wolfgang Kamin, Antje Schuster, Gerd Dockter, Holger Köster, Nathalie Wizla, Wolfram Wiebicke, Hans-Joachim Feickert, Manfred Götz, Sylvie Leroy, Marcus A Mall, Fawzia Aissat, Helge Hebestreit, Vera Wienhausen-Wilke, H.-E. Heuer, Isidor Huttegger, Alexandra Hebestreit, Raphaële Nove-Josserand, Laurence Weiss, Martin Claßen, Marguerite Honer, Reinhard W. Holl, Friedrich-Karl Tegtmeyer, Egbert Meyer, Peter Küster
Publikováno v:
The Lancet Diabetes & Endocrinology. 6:114-121
Summary Background As survival among patients with cystic fibrosis has improved in recent decades, complications have become increasingly relevant. The most frequent complication is cystic-fibrosis-related diabetes. The recommended treatment is injec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6968bf741bada13505bd87c626a9e4be
https://doi.org/10.1016/s2213-8587(17)30400-x
https://doi.org/10.1016/s2213-8587(17)30400-x
Autor:
Cinzia Scambi, Lucia De Franceschi, Patrizia Guarini, Fabio Poli, Angela Siciliano, Patrizia Pattini, Andrea Biondani, Valentina La Verde, Oscar Bortolami, Francesco Turrini, Franco Carta, Ciro D'Orazio, Baroukh M Assael, Giovanni Faccini, Lisa M Bambara
Publikováno v:
PLoS ONE, Vol 4, Iss 3, p e4782 (2009)
Cystic fibrosis (CF) is one of the most common fatal autosomal recessive disorders in the Caucasian population caused by mutations of gene for the cystic fibrosis transmembrane conductance regulator (CFTR). New experimental therapeutic strategies for
Externí odkaz:
https://doaj.org/article/2538d0a6dfbd40b9ad833858e4dbdda1
Autor:
Baroukh M. Assael
Publikováno v:
Medico e Bambino. 39:619-620
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afd1f2bdc79369c1d89d2683ecfccf7f
https://doi.org/10.53126/meb39619
https://doi.org/10.53126/meb39619