Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Daniela Giachino"'
Autor:
Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti
Publikováno v:
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
Abstract Background BRCA1:c.5017_5019del (p.His1673del) is a founder variant relatively frequent in Northern Italy. Despite previous suggestion of pathogenicity, variant classification in public databases is still conflicting, needing additional evid
Externí odkaz:
https://doaj.org/article/32f976e151b24f91bbf40981195926b1
Autor:
Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods We applied a combination
Externí odkaz:
https://doaj.org/article/341d24bce7eb47ffb1b6902c15a0ce41
Autor:
Marika Sculco, Marta La Vecchia, Anna Aspesi, Michela Giulia Clavenna, Michela Salvo, Giulia Borgonovi, Alessandra Pittaro, Gianluca Witel, Francesca Napoli, Angela Listì, Federica Grosso, Roberta Libener, Antonio Maconi, Ottavio Rena, Renzo Boldorini, Daniela Giachino, Paolo Bironzo, Antonella Maffè, Greta Alì, Lisa Elefanti, Chiara Menin, Luisella Righi, Cristian Tampieri, Giorgio Vittorio Scagliotti, Caterina Dianzani, Daniela Ferrante, Enrica Migliore, Corrado Magnani, Dario Mirabelli, Giuseppe Matullo, Irma Dianzani
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1710 (2022)
Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by high susceptibility to several tumor types, chiefly melanoma, mesothelioma, renal cell carcinom
Externí odkaz:
https://doaj.org/article/9b303ee8ebc544bd916a43b7cbf42848
Autor:
Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens, Marleen M. Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan, Jerome Korzelius, Ewart de Bruijn, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall, Jeroen de Ridder, Wigard P. Kloosterman
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
The detection of structural variants can be difficult with short-read sequencing technology, especially when variants are highly complex. Here, the authors use a MinION nanopore sequencer to analyse two patient genomes and develop NanoSV to map known
Externí odkaz:
https://doaj.org/article/2f2f3bf4470440ca92bbf204569b91fc
Autor:
Marika Sculco, Marta La Vecchia, Anna Aspesi, Giulia Pinton, Michela G. Clavenna, Elisabetta Casalone, Alessandra Allione, Federica Grosso, Roberta Libener, Alberto Muzio, Ottavio Rena, Guido Baietto, Sara Parini, Renzo Boldorini, Daniela Giachino, Mauro Papotti, Giorgio V. Scagliotti, Enrica Migliore, Dario Mirabelli, Laura Moro, Corrado Magnani, Daniela Ferrante, Giuseppe Matullo, Irma Dianzani
Publikováno v:
European Journal of Cancer. 163:44-54
Malignant pleural mesothelioma (MPM) is a tumour associated with asbestos exposure. Approximately, 10% of patients with MPM carry a germline pathogenic variant (PV), mostly in DNA repair genes, suggesting the occurrence of inherited predispositions.T
Autor:
Michelle M. Monasky, Emanuele Micaglio, Daniela Giachino, Giuseppe Ciconte, Luigi Giannelli, Emanuela T. Locati, Elisa Ramondini, Roberta Cotugno, Gabriele Vicedomini, Valeria Borrelli, Andrea Ghiroldi, Luigi Anastasia, Carlo Pappone
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 22, p 5522 (2019)
Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifie
Externí odkaz:
https://doaj.org/article/e07216a926b542f69f3f5599690011c2
Autor:
Carla Giustetto, MD, Chiara Scrocco, MD, Daniela Giachino, MD, PhD, Claudio Rapezzi, MD, Barbara Mognetti, PhD, Fiorenzo Gaita, MD
Publikováno v:
HeartRhythm Case Reports, Vol 1, Iss 5, Pp 373-378 (2015)
Externí odkaz:
https://doaj.org/article/5cc2cee3f1884df294086021d1914cb8
Autor:
Marika, Sculco, Marta, La Vecchia, Anna, Aspesi, Michela Giulia, Clavenna, Michela, Salvo, Giulia, Borgonovi, Alessandra, Pittaro, Gianluca, Witel, Francesca, Napoli, Angela, Listì, Federica, Grosso, Roberta, Libener, Antonio, Maconi, Ottavio, Rena, Renzo, Boldorini, Daniela, Giachino, Paolo, Bironzo, Antonella, Maffè, Greta, Alì, Lisa, Elefanti, Chiara, Menin, Luisella, Righi, Cristian, Tampieri, Giorgio Vittorio, Scagliotti, Caterina, Dianzani, Daniela, Ferrante, Enrica, Migliore, Corrado, Magnani, Dario, Mirabelli, Giuseppe, Matullo, Irma, Dianzani
Publikováno v:
Diagnostics (Basel, Switzerland). 12(7)
Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (
Autor:
Giuseppe Reimondo, Iacopo Chiodini, Soraya Puglisi, Anna Pia, Valentina Morelli, Darko Kastelan, Salvatore Cannavo, Paola Berchialla, Daniela Giachino, Paola Perotti, Alessandra Cuccurullo, Piero Paccotti, Paolo Beck-Peccoz, Mario De Marchi, Massimo Terzolo
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162437 (2016)
Patients with adrenal incidentalomas (AI) may experience detrimental consequences due to a minimal cortisol excess sustained by adrenal adenoma. SNPs of the glucocorticoid receptor gene (NR3C1) modulate individual sensitivity to glucocorticoids and m
Externí odkaz:
https://doaj.org/article/eb13f684c5b049259215e7ac2beed00c
Autor:
Rosa Montone, Giorgia Mandrile, Carolina Conter, Barbara Cellini, Alessandra Pelle, Mirco Dindo, Claudio Costantini, Daniela Giachino
Publikováno v:
Molecular Genetics and Metabolism. 131:171-180
Primary Hyperoxaluria type I (PH1) is a rare disease caused by mutations in the AGXT gene encoding alanine:glyoxylate aminotransferase (AGT), a liver enzyme involved in the detoxification of glyoxylate, the failure of which results in accumulation of