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

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

مصطلحات موضوعية: hereditary cancer, unaffected family member, NGS multigene panel

وصف الملف: ELETTRONICO

Relation: volume:16; issue:13; firstpage:2327; numberofpages:12; journal:CANCERS; https://hdl.handle.net/11564/832531; https://www.mdpi.com/2072-6694/16/13/2327

الاتاحة: https://hdl.handle.net/11564/832531
https://doi.org/10.3390/cancers16132327
https://www.mdpi.com/2072-6694/16/13/2327

المؤلفون: Bruno A., Milillo C., Anaclerio F., Buccolini C., Dell'Elice A., Angilletta I., Gatta M., Ballerini P., Antonucci I.

المساهمون: Bruno, A., Milillo, C., Anaclerio, F., Buccolini, C., Dell'Elice, A., Angilletta, I., Gatta, M., Ballerini, P., Antonucci, I.

مصطلحات موضوعية: Alzheimer’s disease, Huntington’s disease, Parkinson’s disease, amyotrophic lateral sclerosi, cell transplantation therapy, gestational stem cell, neurodegenerative diseases

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38256050; info:eu-repo/semantics/altIdentifier/wos/WOS:001150788500001; volume:25; issue:2; firstpage:976; numberofpages:40; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11564/824091; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85183216287; https://www.mdpi.com/1422-0067/25/2/976

الاتاحة: https://hdl.handle.net/11564/824091
https://doi.org/10.3390/ijms25020976
https://www.mdpi.com/1422-0067/25/2/976

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

المصدر: Current Pharmaceutical Design ; volume 30, issue 25, page 1995-2006 ; ISSN 1381-6128

الاتاحة: http://dx.doi.org/10.2174/0113816128305232240607084420
https://www.eurekaselect.com/article/download?doi=10.2174/0113816128305232240607084420
https://www.eurekaselect.com/230942/article

المؤلفون: Angilletta I., Ferrante R., Giansante R., Lombardi L., Babore A., Dell'Elice A., Alessandrelli E., Notarangelo S., Ranaudo M., Palmarini C., De Laurenzi V., Stuppia L., Rossi C.

المساهمون: Angilletta, I., Ferrante, R., Giansante, R., Lombardi, L., Babore, A., Dell'Elice, A., Alessandrelli, E., Notarangelo, S., Ranaudo, M., Palmarini, C., De Laurenzi, V., Stuppia, L., Rossi, C.

مصطلحات موضوعية: diagnosi, disease-modifying therapie, gene therapy, newborn screening, psychological adjustment, spinal muscular atrophy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37834320; info:eu-repo/semantics/altIdentifier/wos/WOS:001097448000001; volume:24; issue:19; firstpage:14873; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11564/818631; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85174712564

الاتاحة: https://hdl.handle.net/11564/818631
https://doi.org/10.3390/ijms241914873

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

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

مصطلحات موضوعية: NGS multigene panel, healthy collateral family member, hereditary cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/38136276; info:eu-repo/semantics/altIdentifier/wos/WOS:001132681900001; volume:15; issue:24; firstpage:5730; numberofpages:15; journal:CANCERS; https://hdl.handle.net/11564/823551; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180674846; https://www.mdpi.com/2072-6694/15/24/5730

الاتاحة: https://hdl.handle.net/11564/823551
https://doi.org/10.3390/cancers15245730
https://www.mdpi.com/2072-6694/15/24/5730

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1060504/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/83e7c56e9d0a4a19bf5d770283c0d7ab

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

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3

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

المصدر: International Journal of Molecular Sciences; Jan2024, Vol. 25 Issue 2, p976, 40p

مصطلحات موضوعية: STEM cells, NEURODEGENERATION, ALZHEIMER'S disease, HUNTINGTON disease, PARKINSON'S disease, AMYOTROPHIC lateral sclerosis, MOTOR neuron diseases

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

المصدر: Cancer Genetics. 254:1-10

مصطلحات موضوعية: Lynch syndrome, Muir-Torre syndrome, MSH6, MSH2, Predictive testing

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-295454

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

المصدر: International Journal of Molecular Sciences; Oct2023, Vol. 24 Issue 19, p14873, 19p

مصطلحات موضوعية: SPINAL muscular atrophy, MOTOR neuron diseases, MUSCULAR atrophy, NEUROMUSCULAR diseases, DIAGNOSIS, AUDIOMETRY, IDENTIFICATION

المؤلفون: 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.

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: Cancer Genetic, Colorectal cancer, Colorectal polyposis not associated with APC/MUTYH mutation, Consensus development conference, Endoscopic surveillance, Polyposis management guideline, Surgical Management, Adenomatous Polyposis Coli, Adenomatous Polyposis Coli Protein, Consensu, DNA Glycosylase, Germ Cell, Human, Italy, Societies, Medical

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33504457; volume:53; issue:4; firstpage:409-417; lastpage:417; journal:DIGESTIVE AND LIVER DISEASE; http://hdl.handle.net/11571/1450138; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099965663

الاتاحة: http://hdl.handle.net/11571/1450138
https://doi.org/10.1016/j.dld.2020.11.018

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8306e6499a61aa27597b880742b2125b
https://doaj.org/article/99c3afe8a4b24cbf9fe7fbe90e0bfcc3

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f531438840439dfae0dfb7c41cf93d16
http://hdl.handle.net/11577/3409650

المؤلفون: Dell'Elice, Anastasia, Cini, Giulia, Fornasarig, Mara, Armelao, Franco, Barana, Daniela, Bianchi, Francesca, Casalis Cavalchini, Guido Claudio, Maffè, Antonella, Mammi, Isabella, Pedroni, Monica, Percesepe, Antonio, Sorrentini, Italo, Tibiletti, Mariagrazia, Maestro, Roberta, Quaia, Michele, Viel, Alessandra

المصدر: Molecular Genetics & Genomic Medicine; Dec2021, Vol. 9 Issue 12, p1-13, 13p

مصطلحات موضوعية: GENETIC disorder diagnosis, PROMOTERS (Genetics)