Zobrazeno 1 - 10
of 865
pro vyhledávání: '"PERCESEPE A"'
Autor:
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-12 (2024)
Abstract Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s
Externí odkaz:
https://doaj.org/article/18d73d17a527428b9867a1ae6e70c7b1
Autor:
Ilenia Rita Cannizzaro, Mirko Treccani, Antonietta Taiani, Enrico Ambrosini, Sabrina Busciglio, Sofia Cesarini, Anita Luberto, Erika De Sensi, Barbara Moschella, Pierpacifico Gismondi, Cinzia Azzoni, Lorena Bottarelli, Giovanna Giordano, Domenico Corradi, Enrico Maria Silini, Valentina Zanatta, Federica Cennamo, Patrizia Bertolini, Patrizia Caggiati, Davide Martorana, Vera Uliana, Antonio Percesepe, Valeria Barili
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10822 (2024)
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral nerve sheath tumors (MPNSTs) which represents the primary cause of death for NF1-affected pati
Externí odkaz:
https://doaj.org/article/0c82ae8c65ed45818a5768f605aa67d6
Autor:
A. Puccini, F. Grillo, M. Fassan, S. Lonardi, M. Genuardi, R. Cannizzaro, G.M. Cavestro, F. Marmorino, V. Conca, L. Salvatore, F. Bergamo, F. Tosi, F. Morano, V. Daprà, C. Molica, D. Barana, A. Guglielmi, C. Signorelli, M. D’Amico, F. Zoratto, D. Iacono, A. Morabito, G. Martini, A. Fabbroncini, M. Duro, G. Bruera, A. Auriemma, B. Bonanni, A. Percesepe, M. Dono, L. Battistuzzi, R. Labianca, L. Boni, S. Sciallero
Publikováno v:
ESMO Gastrointestinal Oncology, Vol 3, Iss , Pp 100044- (2024)
Background: International guidelines recommend universal screening for Lynch syndrome (LS) through somatic DNA mismatch repair deficiency (dMMR) testing in all colorectal cancers (CRCs). However, LS remains largely underdiagnosed. Mainstreaming LS di
Externí odkaz:
https://doaj.org/article/350fbb2656cf4558887078dfc0237d15
Autor:
Gemignani, Franco1 (AUTHOR), Percesepe, Antonio2,3 (AUTHOR), Gualandi, Francesca4 (AUTHOR), Allegri, Isabella5 (AUTHOR), Bellanova, Maria Federica6 (AUTHOR), Nuredini, Andi7 (AUTHOR), Saccani, Elena5 (AUTHOR), Ambrosini, Enrico3 (AUTHOR), Barili, Valeria2 (AUTHOR) valeria.barili@unipr.it, Uliana, Vera3 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1654. 11p.
Autor:
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w
Externí odkaz:
https://doaj.org/article/95febfe0764a45129e5a016236db8fd5
Autor:
Ramirez Zegarra, Ruben, Casati, Daniela, Volpe, Nicola, Lanna, Mariano, Dall'Asta, Andrea, Chiarelli, Annasole, Ormitti, Francesca, Percesepe, Antonio, Montaguti, Elisa, Labadini, Corinne, Salsi, Ginevra, di Pasquo, Elvira, Bonasoni, Maria Paola, Quarello, Edwin, Pilu, Gianluigi, Grisolia, Giampaolo, Righini, Andrea, Ghi, Tullio
Publikováno v:
In American Journal of Obstetrics & Gynecology MFM December 2023 5(12)
Autor:
Martorana, Davide, Barili, Valeria, Uliana, Vera, Ambrosini, Enrico, Riva, Matteo, De Sensi, Erika, Luppi, Elena, Messina, Corinne, Caleffi, Edoardo, Pisani, Francesco, Percesepe, Antonio
Publikováno v:
In European Journal of Medical Genetics November 2023 66(11)
Akademický článek
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Autor:
Marchiani Valentina, Demir Ercan, Corsolini Fabio, Simonati Alessandro, Boespflug-Tanguy Odile, Uziel Graziella, Bertini Enrico, Lualdi Susanna, Mort Matthew, Biancheri Roberta, Regis Stefano, Grossi Serena, Percesepe Antonio, Stanzial Franco, Rossi Andrea, Vaurs-Barrière Catherine, Cooper David N, Filocamo Mirella
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 40 (2011)
Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mut
Externí odkaz:
https://doaj.org/article/113765785a024c339af3c1f7ef99b639
Akademický článek
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