المؤلفون: Lucrezia Pilenzi, Federico Anaclerio, Anastasia Dell’Elice, Maria Minelli, Roberta Giansante, Michela Cicirelli, Nicola Tinari, Antonino Grassadonia, Andrea Pantalone, Simona Grossi, Nicole Canale, Annalisa Bruno, Giuseppe Calabrese, Patrizia Ballerini, Liborio Stuppia, Ivana Antonucci

المصدر: Cancers, Vol 16, Iss 13, p 2327 (2024)

مصطلحات موضوعية: hereditary cancer, unaffected family member, NGS multigene panel, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/16/13/2327Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/e213153cf8f04fc9a58327425795c345Test

المؤلفون: Annalisa Bruno, Cristina Milillo, Federico Anaclerio, Carlotta Buccolini, Anastasia Dell’Elice, Ilaria Angilletta, Marco Gatta, Patrizia Ballerini, Ivana Antonucci

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 976 (2024)

مصطلحات موضوعية: gestational stem cells, neurodegenerative diseases, Parkinson’s disease, Huntington’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/2/976Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/9a38b882122641fe8340b20d2dd43d8eTest

المؤلفون: Sara Di Rado, Roberta Giansante, Michela Cicirelli, Lucrezia Pilenzi, Anastasia Dell’Elice, Federico Anaclerio, Martina Rimoldi, Antonino Grassadonia, Simona Grossi, Nicole Canale, Patrizia Ballerini, Liborio Stuppia, Ivana Antonucci

المصدر: Cancers, Vol 15, Iss 24, p 5730 (2023)

مصطلحات موضوعية: NGS multigene panel, hereditary cancer, healthy collateral family members, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/15/24/5730Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/a83efe06b25a40edbf9eb715d8b6fb5dTest

المؤلفون: Federico Anaclerio, Lucrezia Pilenzi, Anastasia Dell’Elice, Rossella Ferrante, Simona Grossi, Luca Maria Ferlito, Camilla Marinelli, Simona Gildetti, Giuseppe Calabrese, Liborio Stuppia, Ivana Antonucci

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: NGS, hereditary cancer, BRCA, cancer predisposition gene, multi-gene panel testing, breast cancer, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1060504/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/83e7c56e9d0a4a19bf5d770283c0d7abTest

المؤلفون: Ilaria Angilletta, Rossella Ferrante, Roberta Giansante, Lucia Lombardi, Alessandra Babore, Anastasia Dell’Elice, Elisa Alessandrelli, Stefania Notarangelo, Marianna Ranaudo, Claudia Palmarini, Vincenzo De Laurenzi, Liborio Stuppia, Claudia Rossi

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 19, p 14873 (2023)

مصطلحات موضوعية: spinal muscular atrophy, gene therapy, newborn screening, disease-modifying therapies, diagnosis, psychological adjustment, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/19/14873Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/b91fabc271dc40aba8f65d9236ae5cfeTest

المؤلفون: 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

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: monoallelic, MUTYH, pathogenic variant, polyposis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3Test

المؤلفون: Ilaria Bestetti, Ileana Carnevali, Anastasia Dell’Elice, Nora Sahnane, Elisa Pin, Giulia Cini, Alessandra Viel, Roberta Maestro, Anna Maria Chiaravalli, Franco Armelao, Slobodanka Radovic, Maria Grazia Tibiletti

المصدر: Cancer Genetics. :1-10

مصطلحات موضوعية: Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Biology, Germline, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, RNA, Messenger, 3' Untranslated Regions, neoplasms, Molecular Biology, Gene, Germ-Line Mutation, Probability, Whole genome sequencing, Base Sequence, Haplotype, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Pedigree, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, Phenotype, Gene Expression Regulation, MSH3, Muir-Torre Syndrome, MSH2, Case-Control Studies, 030220 oncology & carcinogenesis, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e462b2c8fe5c7d33a24e5c3187659ae4Test
https://doi.org/10.1016/j.cancergen.2021.01.005Test

المؤلفون: 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

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Proband, Male, MUTYH, Genes, APC, Genotype, polyposis, Biology, QH426-470, DNA Glycosylases, Adenomatous Polyps, pathogenic variant, Inheritance Mode, monoallelic, Genetics, Humans, Genetic Predisposition to Disease, Copy-number variation, Genetic Testing, Promoter Regions, Genetic, Molecular Biology, Gene, Genetics (clinical), Alleles, Genetic Association Studies, POLD1, Variant type, Computational Biology, Genetic Variation, Genomics, Original Articles, Pedigree, MSH3, Female, Original Article, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8306e6499a61aa27597b880742b2125bTest
https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3Test

المؤلفون: Emanuele Damiano Luca Urso, Maurizio Ponz de Leon, Marco Vitellaro, Guglielmo Niccolò Piozzi, Quoc Riccardo Bao, Aline Martayan, Andrea Remo, Vittoria Stigliano, Cristina Oliani, Emanuela Lucci Cordisco, Salvatore Pucciarelli, Guglielmina Nadia Ranzani, Alessandra Viel, Francesca Adami, Elisa Alducci, Lucia Amadori, Valentina Arcangeli, Luisa Balestrino, Daniela Barana, Lucio Bertario, Bernardo Bonanni, Stefania Boni, Pierluigi Bullian, Fiorella Carbonardi, Ileana Carnevali, Paola Castelli, Francesco Celotto, Giulia Cini, Gino Crivellari, Duilio Della Libera, Anastasia Dell'elice, Maria Digennaro, Alessandra D'urso, Antonella Fabretto, Daniele Fanale, Irene Feroce, Daniela Furlan, Paola Ghiorzo, Mara Giacché, Milena Gusella, Barbara Liserre, Isabella Mammi, Stefania Massuras, Daniela Mazzà, Eleonora Mollica, Alberto Morabito, Giorgia Nardo, Flavia Palermo, Elena Panizza, Margherita Patruno, Monica Pedroni, Valeria Grazia Maria Pensotti, Guglielmo Niccolo Piozzi, Simonetta Pozzi, Silvia Presi, Marta Puzzono, Mila Ravegnani, Maria Teresa Ricci, Luca Roncucci, Giovanni Battsita Rossi, Elena Maria Sala, Lupe Sanchez Mete, Daniele Sandonà, Stefania Sciallero, Davide Serrano, Stefano Signoroni, Francesca Spina, Monica Taborelli, Gianluca Tedaldi, Maria Grazia Tibiletti, Silvia Tognazzo, Gianluca Tolva, Cristina Maria Concetta Trovato, Daniela Turchetti, Dora Varvara, Caterina Vivanet, Stefania Zovato, Raffaella Alessia Zuppardo

المساهمون: Urso E.D.L., Ponz de Leon M., Vitellaro M., Piozzi G.N., Bao Q.R., Martayan A., Remo A., Stigliano V., Oliani C., Lucci Cordisco E., Pucciarelli S., Ranzani G.N., Viel A., Adami F., Alducci E., Amadori L., Arcangeli V., Balestrino L., Barana D., Bertario L., Bonanni B., Boni S., Bullian P., Carbonardi F., Carnevali I., Castelli P., Celotto F., Cini G., Crivellari G., Libera D.D., Dell'elice A., Digennaro M., D'urso A., Fabretto A., Fanale D., Feroce I., Furlan D., Ghiorzo P., Giacche M., Gusella M., Liserre B., Mammi I., Massuras S., Mazza D., Mollica E., Morabito A., Nardo G., Palermo F., Panizza E., Patruno M., Pedroni M., Pensotti V.G.M., Pozzi S., Presi S., Puzzono M., Ravegnani M., Ricci M.T., Roncucci L., Rossi G.B., Sala E.M., Mete L.S., Sandona D., Sciallero S., Serrano D., Signoroni S., Spina F., Taborelli M., Tedaldi G., Tibiletti M.G., Tognazzo S., Tolva G., Trovato C.M.C., Turchetti D., Varvara D., Vivanet C., Zovato S., Zuppardo R.A.

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Gastrointestinal tumors, Colorectal cancer, Surgical Management, Colorectal polyposis, Germline, 03 medical and health sciences, Cancer Genetic, 0302 clinical medicine, MUTYH, Internal medicine, medicine, Cancer Genetics, Polyposis coli, Hepatology, Pathogenic mutation, business.industry, Colorectal polyposis not associated with APC/MUTYH mutation, Polyposis management guideline, Gastroenterology, Expert consensus, Endoscopic surveillance, medicine.disease, Consensus development conference, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f531438840439dfae0dfb7c41cf93d16Test
http://hdl.handle.net/11577/3409650Test