Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Michele Quaia"'
Autor:
Anastasia Dell’Elice, Giulia Cini, Mara Fornasarig, Franco Armelao, Daniela Barana, Francesca Bianchi, Guido Claudio Casalis Cavalchini, Antonella Maffè, Isabella Mammi, Monica Pedroni, Antonio Percesepe, Italo Sorrentini, Mariagrazia Tibiletti, Roberta Maestro, Michele Quaia, Alessandra Viel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients wi
Externí odkaz:
https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3
Autor:
Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B. Alexandrov, Margherita Bignami
Publikováno v:
EBioMedicine, Vol 20, Iss C, Pp 39-49 (2017)
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated
Externí odkaz:
https://doaj.org/article/87411eb9092b40f79ab724c1640e5e09
Autor:
Isabella Mammi, Monica Pedroni, Antonio Percesepe, Mariagrazia Tibiletti, Giulia Cini, Daniela Barana, Antonella Maffè, Anastasia Dell’Elice, Guido Claudio Casalis Cavalchini, Michele Quaia, Franco Armelao, Italo Sorrentini, Francesca Bianchi, Alessandra Viel, Roberta Maestro, Mara Fornasarig
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8306e6499a61aa27597b880742b2125b
https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3
https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3
Autor:
Francesca Galuppini, Brittany Campbell, Isabella Mammi, J. Kelly, Antonietta Arcella, Felice Giangaspero, Marina Paola Gardiman, Domenico D'Avella, Uri Tabori, Alessandra Viel, F. Rivieri, Matteo Fassan, E. Opocher, Michele Quaia, Melissa Edwards
Publikováno v:
Neuropathology and Applied Neurobiology. 44:233-239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::445935fb38c6a537a194e11cb8e808b8
https://doi.org/10.1111/nan.12450
https://doi.org/10.1111/nan.12450
Autor:
Eleonora Policicchio, Filomena Mazzei, Alessandro Bruselles, Marco Tartaglia, Mara Fornasarig, Alessandra Viel, Roberta Maestro, Maurizio Genuardi, Ettore Meccia, Francesca Grasso, Vittoria Stigliano, Marco Agostini, Marta Baiocchi, Michele Quaia, Giuseppe Giannini, Aline Martayan, Emanuela Lucci-Cordisco, Emanuele Damiano Luca Urso, Vincenzo Canzonieri, Lupe Sanchez-Mete, Maria Grazia Diodoro, Margherita Bignami, Ludmil B. Alexandrov, Alessandro Giuliani, Tiziana Venesio
Publikováno v:
EBioMedicine, Vol 20, Iss C, Pp 39-49 (2017)
EBioMedicine
EBioMedicine
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C > T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62895b2539043f5e375f9e78a41879c1
http://www.sciencedirect.com/science/article/pii/S2352396417301652
http://www.sciencedirect.com/science/article/pii/S2352396417301652
Autor:
Vincenzo Canzonieri, Michele Quaia, Alberto Morabito, Giulia Cini, Emanuele Damiano Luca Urso, Alessandra Viel, Mara Fornasarig, Isabella Mammi, Angela Valentina D'Elia, Roberta Maestro
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Inherited epimutations of Mismatch Repair (MMR) genes are responsible for Lynch Syndrome (LS) in a small, but well defined, subset of patients. Methylation of the MSH2 promoter consequent to the deletion of the upstream EPCAM gene is found
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c101386a9526892cf632bc5aae057e6
http://hdl.handle.net/11390/1150264
http://hdl.handle.net/11390/1150264
Autor:
Viviana Gismondi, Michele Quaia, Davide Bondavalli, Sara Miccoli, Filomena Mazzei, Aline Martayan, Maria Teresa Ricci, Margherita Bignami, Lupe Sanchez-Mete, Alessandra Viel, Vittoria Stigliano, Elisa Giacomini, Liliana Varesco, Luigina Bonelli, Daniela Turchetti
To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a339e3015ee572890ecc3868774d7b87
http://hdl.handle.net/11585/588065
http://hdl.handle.net/11585/588065
Autor:
Alessandra Viel, Raffaella Magris, Renato Cannizzaro, Michele Quaia, Mara Fornasarig, Stefania Maiero
Publikováno v:
Gastroenterology. 152:S557-S558
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88405cd1dc69d888a9f7b202f1852d31
https://doi.org/10.1016/s0016-5085(17)32019-x
https://doi.org/10.1016/s0016-5085(17)32019-x
Autor:
Salvatore Iaquinto, Mara Fornasarig, Simone Di Bella, V. D'Onofrio, Michele Quaia, Nicola Giardullo, Renato Cannizzaro, Gaetano Iaquinto
Publikováno v:
Gastrointestinal Endoscopy. 67:61-67
Background Duodenal cancer and ampullary cancer are major causes of death after a prophylactic colectomy in patients with familial adenomatous polyposis (FAP). Forward-viewing endoscopy and side-viewing endoscopy are recommended in patients with FAP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdefa5cc97a3bce740df376f0ee7bcc6
https://doi.org/10.1016/j.gie.2007.07.048
https://doi.org/10.1016/j.gie.2007.07.048
Autor:
R. Magris, E. Canton, Mara Fornasarig, Stefania Maiero, G. Cini, R. Cannizzaro, Michele Quaia, Alessandra Viel
Publikováno v:
Digestive and Liver Disease. 49:e179
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95229a5c65e2b9f51accf79744b493ed
https://doi.org/10.1016/s1590-8658(17)30525-x
https://doi.org/10.1016/s1590-8658(17)30525-x