المؤلفون: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: BRCA1, ATM, double heterozygote, spliceogenic variant, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1306238/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/cf0e5af15c974951a1572ca1482f04aaTest

المؤلفون: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: BRCA1, ATM, double heterozygote, spliceogenic variant, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1102184/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/b76381f125064bd08ab9f1b78437c1f1Test

المؤلفون: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, BRCA1, ATM, double heterozygote, spliceogenic variant, case report

العلاقة: https://figshare.com/articles/dataset/Table_1_A_novel_BRCA1_splicing_variant_detected_in_an_early_onset_triple-negative_breast_cancer_patient_additionally_carrying_a_pathogenic_variant_in_ATM_A_case_report_docx/22307794Test

الإتاحة: https://doi.org/10.3389/fonc.2023.1102184.s001Test
https://figshare.com/articles/dataset/Table_1_A_novel_BRCA1_splicing_variant_detected_in_an_early_onset_triple-negative_breast_cancer_patient_additionally_carrying_a_pathogenic_variant_in_ATM_A_case_report_docx/22307794Test

المؤلفون: Mela Di Gregorio, Claudia Foglia, Mirco Menigatti, Patrizia Mondini, Raffaele Palmirotta, Valeria Pensotti, Luca Roncucci, Valentina Rovella, Ra Scarselli, Vincenzo Casale, Antonio Russo, Paola Sala, Paola Alberici, Isabella Gazzoli, Paolo Radice, Claudia Montefusco, Margherita Torrini, Cristina Mareni, Mara Fornasarig, Manuela Santarosa, Ra Viel, Piero Benatti, Monica Pedroni, Maurizio Ponz De Leon, Emanuela Lucci-cordisco, Maurizio Genuardi, Luca Messerini, Vittoria Stigliano, Ro Cama, Maria Cristina Curia, Laura De Lellis, Stefano Signoroni, Marco A Pierotti, Lucio Bertario

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://tumorionline.it/r.php?a%3D5514%26f%3Dallegati/00467_2009_06/fulltext/16-Russo+%28731-738%29.pdf%26l%3D5703%26v%3D467Test.

مصطلحات موضوعية: 1Epidemiology Unit, San Carlo Hospital, Milan, 2Department of Preventive-Predictive Medicine, and

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.654.4074Test; http://tumorionline.it/r.php?a%3D5514%26f%3Dallegati/00467_2009_06/fulltext/16-Russo+%28731-738%29.pdf%26l%3D5703%26v%3D467Test

الإتاحة: http://tumorionline.it/r.php?a%3D5514%26f%3Dallegati/00467_2009_06/fulltext/16-Russo+%28731-738%29.pdf%26l%3D5703%26v%3D467Test

المؤلفون: Mela Di Gregorio, Claudia Foglia, Mirco Menigatti, Patrizia Mondini, Raffaele Palmirotta, Valeria Pensotti, Luca Roncucci, Valentina Rovella, Ra Scarselli, Vincenzo Casale, Antonio Russo, Paola Sala, Paola Alberici, Isabella Gazzoli, Paolo Radice, Claudia Montefusco, Margherita Torrini, Cristina Mareni, Mara Fornasarig, Manuela Santarosa, Ra Viel, Piero Benatti, Monica Pedroni, Maurizio Ponz De Leon, Emanuela Lucci-cordisco, Maurizio Genuardi, Luca Messerini, Vittoria Stigliano, Ro Cama, Maria Cristina Curia, Laura De Lellis, Stefano Signoroni, Marco A Pierotti, Lucio Bertario

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.tumorionline.it/allegati/00467_2009_06/fulltext/16-RussoTest (731-738).pdf.

مصطلحات موضوعية: 1Epidemiology Unit, San Carlo Hospital, Milan, 2Department of Preventive-Predictive Medicine, and

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.601.4421Test; http://www.tumorionline.it/allegati/00467_2009_06/fulltext/16-RussoTest (731-738).pdf

الإتاحة: http://www.tumorionline.it/allegati/00467_2009_06/fulltext/16-RussoTest (731-738).pdf

المؤلفون: Mara, Colombo, Irene, Lòpez-Perolio, Huong D, Meeks, Laura, Caleca, Michael T, Parsons, Hongyan, Li, Giovanna, De Vecchi, Emma, Tudini, Claudia, Foglia, Patrizia, Mondini, Siranoush, Manoukian, Raquel, Behar, Encarna B Gómez, Garcia, Alfons, Meindl, Marco, Montagna, Dieter, Niederacher, Ane Y, Schmidt, Liliana, Varesco, Barbara, Wappenschmidt, Manjeet K, Bolla, Joe, Dennis, Kyriaki, Michailidou, Qin, Wang, Kristiina, Aittomäki, Irene L, Andrulis, Hoda, Anton-Culver, Volker, Arndt, Matthias W, Beckmann, Alicia, Beeghly-Fadel, Javier, Benitez, Bram, Boeckx, Natalia V, Bogdanova, Stig E, Bojesen, Bernardo, Bonanni, Hiltrud, Brauch, Hermann, Brenner, Barbara, Burwinkel, Jenny, Chang-Claude, Don M, Conroy, Fergus J, Couch, Angela, Cox, Simon S, Cross, Kamila, Czene, Peter, Devilee, Thilo, Dörk, Mikael, Eriksson, Peter A, Fasching, Jonine, Figueroa, Olivia, Fletcher, Henrik, Flyger, Marike, Gabrielson, Montserrat, García-Closas, Graham G, Giles, Anna, González-Neira, Pascal, Guénel, Christopher A, Haiman, Per, Hall, Ute, Hamann, Mikael, Hartman, Jan, Hauke, Antoinette, Hollestelle, John L, Hopper, Anna, Jakubowska, Audrey, Jung, Veli-Matti, Kosma, Diether, Lambrechts, Loid, Le Marchand, Annika, Lindblom, Jan, Lubinski, Arto, Mannermaa, Sara, Margolin, Hui, Miao, Roger L, Milne, Susan L, Neuhausen, Heli, Nevanlinna, Janet E, Olson, Paolo, Peterlongo, Julian, Peto, Katri, Pylkäs, Elinor J, Sawyer, Marjanka K, Schmidt, Rita K, Schmutzler, Andreas, Schneeweiss, Minouk J, Schoemaker, Mee Hoong, See, Melissa C, Southey, Anthony, Swerdlow, Soo H, Teo, Amanda E, Toland, Ian, Tomlinson, Thérèse, Truong, Christi J, van Asperen, Ans M W, van den Ouweland, Lizet E, van der Kolk, Robert, Winqvist, Drakoulis, Yannoukakos, Wei, Zheng, Alison M, Dunning, Douglas F, Easton, Alex, Henderson, Frans B L, Hogervorst, Louise, Izatt, Kenneth, Offitt, Lucy E, Side, Elizabeth J, van Rensburg, Study, Embrace, Study, Hebon, Lesley, McGuffog, Antonis C, Antoniou, Georgia, Chenevix-Trench, Amanda B, Spurdle, David E, Goldgar, Miguel de la, Hoya, Paolo, Radice

المصدر: Human Mutation

مصطلحات موضوعية: BRCA2 Protein, Base Sequence, Models, Genetic, digital PCR, multifactorial likelihood analysis, Mitomycin, RNA Splicing, spliceogenic variants, Genetic Variation, Exons, BRCA2, Cell Line, Calibration, Humans, Female, Genetic Predisposition to Disease, RNA, Messenger, Research Articles, quantitative real‐time PCR, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e295a194ff0f1c6983a63b84075e2791Test
https://pubmed.ncbi.nlm.nih.gov/29460995Test

المؤلفون: Francesca, Molinari, Stefano, Signoroni, Andrea, Lampis, Claudia, Bertan, Federica, Perrone, Paola, Sala, Patrizia, Mondini, Stefano, Crippa, Lucio, Bertario, Milo, Frattini

المصدر: Tumori. 100(3)

مصطلحات موضوعية: Male, Proto-Oncogene Proteins B-raf, DNA Mutational Analysis, Nuclear Proteins, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, DNA-Binding Proteins, MutS Homolog 2 Protein, Italy, Humans, Female, Microsatellite Instability, MutL Protein Homolog 1, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Aged, Neoplasm Staging, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9b5a04395a4553d4df8dd6911b87c5baTest
https://pubmed.ncbi.nlm.nih.gov/25076244Test