نتائج البحث - "Della Puppa, Lara"

المصدر: Patel , V L , Busch , E L , Friebel , T M , Cronin , A , Leslie , G , McGuffog , L , Adlard , J , Agata , S , Agnarsson , B A , Ahmed , M , Aittomäki , K , Alducci , E , Andrulis , I L , Arason , A , Arnold , N , Artioli , G , Arver , B , Auber , B , Azzollini , J , Balmaña , J , Barkardottir , R B , Barnes , D R , Barroso , A , ....

العلاقة: https://pure.au.dk/portal/en/publications/21e7313a-9751-4450-9d07-8280a300ac68Test

الإتاحة: https://doi.org/10.1158/0008-5472.CAN-19-1840Test
https://pure.au.dk/portal/en/publications/21e7313a-9751-4450-9d07-8280a300ac68Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553241/pdf/nihms-1628039.pdfTest

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5

دورية أكاديمية

Metabolic Clues to Bile Acid Patterns and Prolonged Survival in Patients with Metastatic Soft-Tissue Sarcoma Treated with Trabectedin.

المؤلفون: Miolo, Gianmaria, Buonadonna, Angela, Scalone, Simona, Lombardi, Davide, Della Puppa, Lara, Steffan, Agostino, Corona, Giuseppe

المصدر: Metabolites (2218-1989); Oct2023, Vol. 13 Issue 10, p1035, 14p

مصطلحات موضوعية: BILE acids, TRABECTEDIN, OVERALL survival, PROGNOSIS, SARCOMA, FARNESOID X receptor, METABOLOMICS

النص الكامل

6

دورية أكاديمية

Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development

المؤلفون: Miolo, Gianmaria, Colavito, Davide, Della Puppa, Lara, Corona, Giuseppe

المصدر: Molecular Syndromology ; volume 15, issue 2, page 167-174 ; ISSN 1661-8769 1661-8777

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1159/000535057Test
https://karger.com/msy/article-pdf/15/2/167/4188651/000535057.pdfTest

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7

دورية أكاديمية

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

المؤلفون: Cini, Giulia, Mezzavilla, Massimo, Della Puppa, Lara, Cupelli, Elisa, FORNASIN, Alessio, D'ELIA, Angela Valentina, Dolcetti, Riccardo, DAMANTE, Giuseppe, Bertok, Sara, Miolo, Gianmaria, Maestro, Roberta, de Paoli, Paolo, Amoroso, Antonio, Viel, Alessandra

المساهمون: Cini, Giulia, Mezzavilla, Massimo, Della Puppa, Lara, Cupelli, Elisa, Fornasin, Alessio, D'Elia, Angela Valentina, Dolcetti, Riccardo, Damante, Giuseppe, Bertok, Sara, Miolo, Gianmaria, Maestro, Roberta, de Paoli, Paolo, Amoroso, Antonio, Viel, Alessandra

مصطلحات موضوعية: BRCA1, BRCA2, Breast cancer, Founder mutation, Italian, SNaPshot®, Adult, Aged, Allele, BRCA1 Protein, BRCA2 Protein, Breast Neoplasm, Case-Control Studie, Female, Founder Effect, Genetic Testing, Genome-Wide Association Study, Genotyping Technique, Haplotype, Human, Italy, Male, Microsatellite Repeat, Middle Aged, Mutation, Ovarian Neoplasm, Young Adult, DNA Mutational Analysi, Genetics (clinical), Genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000369478200001; volume:17; issue:1; firstpage:11; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/11390/1090995Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84957050431; http://www.biomedcentral.com/bmcmedgenetTest/

الإتاحة: https://doi.org/10.1186/s12881-016-0274-6Test
http://hdl.handle.net/11390/1090995Test
http://www.biomedcentral.com/bmcmedgenetTest/

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8

دورية أكاديمية

Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma

المؤلفون: Miolo, Gianmaria, Viel, Alessandra, Canzonieri, Vincenzo, Baresic, Tania, Buonadonna, Angela, Santeufemia, Davide Adriano, Della Puppa, Lara, Corona, Giuseppe

المساهمون: Miolo, Gianmaria, Viel, Alessandra, Canzonieri, Vincenzo, Baresic, Tania, Buonadonna, Angela, Santeufemia, Davide Adriano, Della Puppa, Lara, Corona, Giuseppe

مصطلحات موضوعية: BRCA2 germline variant, DNA damage, mutation, soft tissue sarcoma, trabectedin, tumor genotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27561088; info:eu-repo/semantics/altIdentifier/wos/WOS:000386843400004; volume:17; issue:10; firstpage:1017; lastpage:1021; numberofpages:5; journal:CANCER BIOLOGY & THERAPY; http://hdl.handle.net/11368/2968249Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991738594

الإتاحة: https://doi.org/10.1080/15384047.2016.1219812Test
http://hdl.handle.net/11368/2968249Test

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9

دورية أكاديمية

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

المؤلفون: Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valerie, Dondon, Marie-Gabrielle, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., GENESIS, Mitchell, Gillian, James, Paul A., Thompson, Ella, kConFab, SWE-BRCA, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Della Puppa, Lara, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1319891Test; https://mediatum.ub.tum.de/doc/1319891/document.pdfTest

الإتاحة: https://doi.org/10.1093/hmg/ddv251Test
https://mediatum.ub.tum.de/1319891Test
https://mediatum.ub.tum.de/doc/1319891/document.pdfTest

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10

دورية أكاديمية

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

المؤلفون: Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, kConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lázaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Molina Gomes, Denise, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Cilius Nielsen, Finn C, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Høgh Petersen, Annabeth, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline Maria, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R

المساهمون: Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Han, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajo, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute

مصطلحات موضوعية: BRCA1, BRCA2, Prostate Cancer, Pathogenic sequence variant location, Risk estimation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31723001; info:eu-repo/semantics/altIdentifier/wos/WOS:000514161100024; firstpage:canres.1840.2019; journal:CANCER RESEARCH; http://hdl.handle.net/11573/1343157Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079022145

الإتاحة: https://doi.org/10.1158/0008-5472.CAN-19-1840Test
http://hdl.handle.net/11573/1343157Test

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