Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Federica Isidori"'
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Luana Licata, Allegra Via, Paola Turina, Giulia Babbi, Silvia Benevenuta, Claudio Carta, Rita Casadio, Andrea Cicconardi, Angelo Facchiano, Piero Fariselli, Deborah Giordano, Federica Isidori, Anna Marabotti, Pier Luigi Martelli, Stefano Pascarella, Michele Pinelli, Tommaso Pippucci, Roberta Russo, Castrense Savojardo, Bernardina Scafuri, Lucrezia Valeriani, Emidio Capriotti
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Collectively, rare genetic disorders affect a substantial portion of the world’s population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanis
Externí odkaz:
https://doaj.org/article/11124e19b5df45e0a5d0ff3484da618c
Autor:
Federica Isidori, Deborah Malvi, Silvia Fittipaldi, Claudio Forcato, Isotta Bozzarelli, Claudia Sala, Giovanni Raulli, Antonia D’Errico, Michelangelo Fiorentino, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli, EAC-BAGH group
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background We report on a female patient who underwent primary radical resection for a stage 2B Her-2-positive Barrett’s-type esophageal adenocarcinoma (EAC). Despite Her-2 targeted therapy, her disease recurred and required repeated metas
Externí odkaz:
https://doaj.org/article/3a7df160cd0b498f8280c02362db206e
Autor:
Elena Bonora, Luca Mastracci, Arianna Orsini, Isotta Bozzarelli, Federica Isidori, Valentina Tassi, Roberto Fiocca, Marialuisa Lugaresi, Antonietta D'Errico, Deborah Malvi, Paola Spaggiari, Anna Tomezzoli, Luca Albarello, Ari Ristimäki, Luca Bottiglieri, Kausilia Krishnadath, Riccardo Rosati, Uberto Fumagalli Romario, Giovanni De Manzoni, Jari Räsänen, Sandro Mattioli
Publikováno v:
Diseases of the Esophagus. 35
The incidence of esophageal adenocarcinoma (EAC) has constantly risen in western countries over the past decades, often diagnosed at advanced stage and with a five-year survival around 20%1. In a previous study on EAC cases submitted to surgery (with
Autor:
Federica Isidori, Federico Maria Cau, Lucio Davide Spano, Roberto Cusano, Davide Zedda, Marie Florence Wilson, Francesco Cabras, Carole Salis
Publikováno v:
Advances in Intelligent Systems and Computing ISBN: 9783030672089
RIALE (Remote Intelligent Access to Lab Experiment) is a concept designed to supplement school science laboratories. Its multifunctional platform for innovative learning applications offers a multimodal approach of science. During Lab experiments Int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b38cf18881e521eb2ed2bf4b5594933
https://doi.org/10.1007/978-3-030-67209-6_9
https://doi.org/10.1007/978-3-030-67209-6_9
Autor:
Pierluigi Martelli, Tom J. de Koning, Takema Kato, Irene Liparulo, Mariko Taniguchi-Ikeda, Tatsushi Toda, Hisayoshi Nakamura, Wilfred F. A. den Dunnen, Giovanna Cenacchi, Sanjiban Chakrabarty, Yu Sheng Yeh, Sushil Kumar Mishra, Rita Casadio, Akira Ohtake, Ichizo Nishino, Roberto De Giorgio, Paolo Picco, Pasquale Striano, Chiara Fiorillo, Isabella Ceccherini, Tsuyoshi Goto, Elisa Boschetti, Makiko Tsutsumi, Eleonora Aronica, Georgios Kellaris, Mariel Alders, Gabor E. Linthorst, Jantima Tanboon, Angela Rita Sementa, Floor A. M. Duijkers, Yu Ichi Goto, Hiroki Kurahashi, Masakazu Mimaki, Gerard Dijkstra, Dik C. van Gent, Mariasavina Severino, Yoshinobu Oyazato, Christian Bergamini, Ikuya Nonaka, Yoshiki Yamaguchi, Ivana Matera, Giuseppe Raiola, Karin Van Spaendonck, Nicholas Katsanis, Luca Masin, Shumpei Uchino, Kenjiro Kosaki, Sara Signa, Anja Raams, Federica Isidori, Elena Bonora, Serena Arrigo, Kandai Nozu, Marc Engelen, Farid Ullah, Ichiro Morioka, Chiara Diquigiovanni, Marco Seri, Valerio Carelli, Francesca Bianco, Mariapia Giuditta Cratere, Nicola Rizzardi, Romana Fato, Alessandra Maresca, Alyson W. MacInnes, Valentina Papa, Kazumoto Iijima
Publikováno v:
Brain : a Journal of Neurology, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Press
Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e470f830e056717e954489f79a11efb4
http://hdl.handle.net/11567/1065221
http://hdl.handle.net/11567/1065221
Autor:
Marco Seri, Luca Mastracci, Isotta Bozzarelli, Marialuisa Lugaresi, Jari Räsänen, Deborah Malvi, Henna Söderström, Chiara Molinari, Antonia D'Errico, Federica Isidori, Sandro Mattioli, Elena Bonora, Roberto Fiocca, Kausilia K. Krishnadath
Publikováno v:
Clinical and Translational Gastroenterology
Clinical and translational gastroenterology, 11(9). Nature Publishing Group
Clinical and translational gastroenterology, 11(9). Nature Publishing Group
INTRODUCTION: Our study aimed at investigating tumor heterogeneity in esophageal adenocarcinoma (EAC) cells regarding clinical outcomes. METHODS: Thirty-eight surgical EAC cases who underwent gastroesophageal resection with lymph node dissection in 3
Autor:
Daniela Turchetti, Federica Isidori, Lea Godino, Giovanni Innella, Simona Ferrari, Elena Bonora, Isotta Bozzarelli
Publikováno v:
Cancers
Cancers, Vol 12, Iss 2539, p 2539 (2020)
Volume 12
Issue 9
Cancers, Vol 12, Iss 2539, p 2539 (2020)
Volume 12
Issue 9
Simple Summary Breast cancer is the second leading cause of death in women. Identifying novel genetic factors conferring BC predisposition is crucial to predict who is at increased risk of developing the disease, allowing for early detection and ther
Autor:
Eacsge, Marco Seri, Isotta Bozzarelli, H Söderström, A D’Errico, Roberto Fiocca, Elena Bonora, Deborah Malvi, L Mastracci, Federica Isidori, J Räsänen, S J M Hoefnagel, G Raulli, Sandro Mattioli, K K Krishnadath, Ml Lugaresi
Publikováno v:
Diseases of the Esophagus. 32
Aim Our study aimed to characterize miR-221 and 483-3p dysregulation and to correlate their expression with clinical outcomes in patients submitted in first instance to surgical therapy (naïve patients) for esophageal adenocarcinoma (EAC). Backgroun
Autor:
Henna Söderström, Luca Mastracci, Federica Isidori, S J M Hoefnagel, Marco Seri, Isotta Bozzarelli, Jari Räsänen, Roberto Fiocca, Elena Bonora, Ml Lugaresi, Deborah Malvi, Sandro Mattioli, Antonietta D'Errico, Kausilia K. Krishnadath
Publikováno v:
Diseases of the Esophagus. 32
Aim Our study is aimed to evaluate the impact of SMAD4 expression on the clinical outcome of therapy for esophageal adenocarcinoma (EAC). Background & Methods Esophageal adenocarcinoma is characterized by a high genetic heterogeneity and a low surviv