Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for path...

por GAMBINO, GAETANA, TANCREDI, MARIELLA, FALASCHI, ELISABETTA, ARETINI, PAOLO, CALIGO, MARIA ADELAIDE
Publicado 2015

Effects on human transcriptome of mutated BRCA1 BRCT domain: A microarray study

por Iofrida, Caterina, Melissari, Erika, Mariotti, Veronica, Guglielmi, Chiara, Guidugli, Lucia, Caligo, Maria Adelaide, Pellegrini, Silvia
Publicado 2012

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants

por Bellè, Francesca, Mercatanti, Alberto, Lodovichi, Samuele, Congregati, Caterina, Guglielmi, Chiara, Tancredi, Mariella, Caligo, Maria Adelaide, Cervelli, Tiziana, Galli, Alvaro
Publicado 2022

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

por Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo
Publicado 2020

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

por Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I., Peroni, Diego G.
Publicado 2021

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times

por Aretini, Paolo, Presciuttini, Silvano, Pastore, Aldo, Galli, Alvaro, Panepinto, Sara, Tancredi, Mariella, Ghilli, Matteo, Guglielmi, Chiara, Sidoti, Diletta, Congregati, Caterina, Caligo, Maria Adelaide
Publicado 2023

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development

por Bertini, Veronica, Baldinotti, Fulvia, Parma, Pietro, Tyutyusheva, Nina, Sepich, Margherita, Bertolucci, Giulia, Rosano, Camillo, Caligo, Maria Adelaide, Peroni, Diego, Valetto, Angelo, Bertelloni, Silvano
Publicado 2023

Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome

por Pierotti, Laura, Pardi, Elena, Dinoi, Elisa, Piaggi, Paolo, Borsari, Simona, Della Valentina, Simone, Sardella, Chiara, Michelucci, Angela, Caligo, Maria Adelaide, Bogazzi, Fausto, Marcocci, Claudio, Cetani, Filomena
Publicado 2023

Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy

por Palli, Domenico, Falchetti, Mario, Masala, Giovanna, Lupi, Ramona, Sera, Francesco, Saieva, Calogero, D'Amico, Cristina, Ceroti, Marco, Rizzolo, Piera, Caligo, Maria Adelaide, Zanna, Ines, Ottini, Laura
Publicado 2007

Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup

por Ciabatti, Elena, Valetto, Angelo, Bertini, Veronica, Ferreri, Maria Immacolata, Guazzelli, Alice, Grassi, Susanna, Guerrini, Francesca, Petrini, Iacopo, Metelli, Maria Rita, Caligo, Maria Adelaide, Rossi, Simona, Galimberti, Sara
Publicado 2017

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

por Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide
Publicado 2018

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report

por Giannese, Domenico, Montano, Vincenzo, Lopriore, Piervito, Nesti, Claudia, LoGerfo, Annalisa, Caligo, Maria Adelaide, Dal Canto, Flavio, Pasquinelli, Gianandrea, Bonadio, Angelo Giovanni, Moriconi, Diego, Siciliano, Gabriele, Mancuso, Michelangelo
Publicado 2023

Mouse mammary tumor virus (MMTV) - like exogenous sequences are associated with sporadic but not hereditary human breast carcinoma

por Naccarato, Antonio Giuseppe, Lessi, Francesca, Zavaglia, Katia, Scatena, Cristian, Al Hamad, Mohammad A., Aretini, Paolo, Menicagli, Michele, Roncella, Manuela, Ghilli, Matteo, Caligo, Maria Adelaide, Mazzanti, Chiara Maria, Bevilacqua, Generoso
Publicado 2019

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development

por Maresca, Luisa, Lodovichi, Samuele, Lorenzoni, Alessandra, Cervelli, Tiziana, Monaco, Rossella, Spugnesi, Laura, Tancredi, Mariella, Falaschi, Elisabetta, Zavaglia, Katia, Landucci, Elisabetta, Roncella, Manuela, Congregati, Caterina, Gadducci, Angiolo, Naccarato, Antonio Giuseppe, Caligo, Maria Adelaide, Galli, Alvaro
Publicado 2018

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

por Guglielmi, Chiara, Scarpitta, Rosa, Gambino, Gaetana, Conti, Eleonora, Bellè, Francesca, Tancredi, Mariella, Cervelli, Tiziana, Falaschi, Elisabetta, Cosini, Cinzia, Aretini, Paolo, Congregati, Caterina, Marino, Marco, Patruno, Margherita, Pilato, Brunella, Spina, Francesca, Balestrino, Luisa, Tenedini, Elena, Carnevali, Ileana, Cortesi, Laura, Tagliafico, Enrico, Tibiletti, Maria Grazia, Tommasi, Stefania, Ghilli, Matteo, Vivanet, Caterina, Galli, Alvaro, Caligo, Maria Adelaide
Publicado 2021

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

por Maia, Ana-Teresa, Antoniou, Antonis C, O'Reilly, Martin, Samarajiwa, Shamith, Dunning, Mark, Kartsonaki, Christiana, Chin, Suet-Feung, Curtis, Christina N, McGuffog, Lesley, Domchek, Susan M, Easton, Douglas F, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Eccles, Diana, Sinilnikova, Olga M, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Faivre, Laurence, Venat-Bouvet, Laurence, Delnatte, Capucine, Nevanlinna, Heli, Couch, Fergus J, Godwin, Andrew K, Caligo, Maria Adelaide, Barkardottir, Rosa B, Chen, Xiaoqing, Beesley, Jonathan, Healey, Sue, Caldas, Carlos, Chenevix-Trench, Georgia, Ponder, Bruce AJ
Publicado 2012

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

por Walker, Logan C, Fredericksen, Zachary S, Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S, Lindor, Noralane M, Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Giraud, Sophie, Mazoyer, Sylvie, Muller, Danièle, Fricker, Jean-Pierre, Delnatte, Capucine, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Schönbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B, Verheus, Martijn, Hooning, Maartje J, van den Ouweland, Ans MW, Nelen, Marcel R, Ausems, Margreet GEM, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gerrits, Monique M, Waisfisz, Quinten, Szabo, Csilla I, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Rebbeck, Tim, Nathanson, Katherine L, Domchek, Susan M, Singer, Christian F, Gschwantler-Kaulich, Daphne, Dressler, Anne-Catharina, Pfeiler, Georg, Godwin, Andrew K, Heikkinen, Tuomas, Nevanlinna, Heli, Agnarsson, Bjarni A, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Liljegren, Annelie, Arver, Brita, Karlsson, Per, Melin, Beatrice, Sinilnikova, Olga M, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Couch, Fergus J
Publicado 2010

Exploring the link between MORF4L1 and risk of breast cancer

por Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, Pujana, Miguel Angel
Publicado 2011