Rothmund-Thomson syndrome

por Larizza, Lidia, Roversi, Gaia, Volpi, Ludovica
Publicado 2010

Multiple Localization of Endogenous MARK4L Protein in Human Glioma

por Magnani, Ivana, Novielli, Chiara, Bellini, Melissa, Roversi, Gaia, Bello, Lorenzo, Larizza, Lidia
Publicado 2009

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer pred...

por Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia
Publicado 2021

The Effect of Culture on Human Bone Marrow Mesenchymal Stem Cells: Focus on DNA Methylation Profiles

por Bentivegna, Angela, Roversi, Gaia, Riva, Gabriele, Paoletta, Laura, Redaelli, Serena, Miloso, Mariarosaria, Tredici, Giovanni, Dalprà, Leda
Publicado 2016

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

por Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia
Publicado 2018

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

por Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela
Publicado 2019

Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region

por Redaelli, Serena, Conconi, Donatella, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Catusi, Ilaria, Valtorta, Chiara, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela
Publicado 2022

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7

por Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Conconi, Donatella, Sala, Elena Maria, Crosti, Francesca, Mariani, Silvana, Colombo, Carla Maria, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela, Roversi, Gaia
Publicado 2023

Genomic and Epigenomic Profile of Uterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMPs) Revealed Similarities and Differences with Leiomyomas and Leiomyosarcomas

por Conconi, Donatella, Redaelli, Serena, Lissoni, Andrea Alberto, Cilibrasi, Chiara, Perego, Patrizia, Gautiero, Eugenio, Sala, Elena, Paderno, Mariachiara, Dalprà, Leda, Landoni, Fabio, Lavitrano, Marialuisa, Roversi, Gaia, Bentivegna, Angela
Publicado 2021

Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy

por Giambra, Martina, Di Cristofori, Andrea, Conconi, Donatella, Marzorati, Matilde, Redaelli, Serena, Zambuto, Melissa, Rocca, Alessandra, Roumy, Louis, Carrabba, Giorgio, Lavitrano, Marialuisa, Roversi, Gaia, Giussani, Carlo, Bentivegna, Angela
Publicado 2023

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison

por Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Conconi, Donatella, Romitti, Lorenza, Manfredini, Emanuela, Crosti, Francesca, Roversi, Gaia, Lavitrano, Marialuisa, Rodeschini, Ornella, Recalcati, Maria Paola, Piazza, Rocco, Dalprà, Leda, Riva, Paola, Bentivegna, Angela
Publicado 2021

Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy

por Negri, Serena, De Ponti, Elena, Sina, Federica Paola, Sala, Elena, Dell'Oro, Cristina, Roversi, Gaia, Lazzarin, Sara, Delle Marchette, Martina, Inzoli, Alesssandra, Toso, Claudia, Fumagalli, Simona, Campanella, Maria, Kotsopoulos, Joanne, Fruscio, Robert
Publicado 2022

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

por Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Publicado 2015

Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

por Redaelli, Serena, Conconi, Donatella, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Corti, Cecilia, Catusi, Ilaria, Garzo, Maria, Romitti, Lorenza, Martinoli, Emanuela, Patrizi, Antonella, Malgara, Roberta, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Roversi, Gaia, Bentivegna, Angela
Publicado 2020

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

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

por Kuchenbaecker, Karoline B, Neuhausen, Susan L, Robson, Mark, Barrowdale, Daniel, McGuffog, Lesley, Mulligan, Anna Marie, Andrulis, Irene L, Spurdle, Amanda B, Schmidt, Marjanka K, Schmutzler, Rita K, Engel, Christoph, Wappenschmidt, Barbara, Nevanlinna, Heli, Thomassen, Mads, Southey, Melissa, Radice, Paolo, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Lee, Andrew, Healey, Sue, Nussbaum, Robert L, Rebbeck, Timothy R, Arun, Banu K, James, Paul, Karlan, Beth Y, Lester, Jenny, Cass, Ilana, Registry, Breast Cancer Family, Terry, Mary Beth, Daly, Mary B, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, v O Hansen, Thomas, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Dennis, Joe, Cunningham, Julie, Hart, Steven, Slager, Susan, Osorio, Ana, Benitez, Javier, Duran, Mercedes, Weitzel, Jeffrey N, Tafur, Isaac, Hander, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Roversi, Gaia, Scuvera, Giulietta, Bonanni, Bernardo, Mariani, Paolo, Volorio, Sara, Dolcetti, Riccardo, Varesco, Liliana, Papi, Laura, Tibiletti, Maria Grazia, Giannini, Giuseppe, Fostira, Florentia, Konstantopoulou, Irene, Garber, Judy, Hamann, Ute, Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D Gareth, Frost, Debra, Eccles, Diana, Douglas, Fiona, Brady, Angela, Cook, Jackie, Tischkowitz, Marc, Adlard, Julian, Barwell, Julian, Ong, Kai-ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Platte, Radka, Eeles, Ros, Davidson, Rosemarie, Hodgson, Shirley, Ellis, Steve, Godwin, Andrew K, Rhiem, Kerstin, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hansjoerg, Niederacher, Dieter, Sutter, Christian, Steinemann, Doris, Bogdanova-Markov, Nadja, Kast, Karin, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Gehrig, Andrea, Markiefka, Birgid, Buecher, Bruno, Lefol, Cédrick, Stoppa-Lyonnet, Dominique, Rouleau, Etienne, Prieur, Fabienne, Damiola, Francesca, Barjhoux, Laure, Faivre, Laurence, Longy, Michel, Sevenet, Nicolas, Sinilnikova, Olga M, Mazoyer, Sylvie, Bonadona, Valérie, Caux-Moncoutier, Virginie, Isaacs, Claudine, Van Maerken, Tom, Claes, Kathleen, Piedmonte, Marion, Andrews, Lesley, Hays, John, Rodriguez, Gustavo C, Caldes, Trinidad, de la Hoya, Miguel, Khan, Sofia, Hogervorst, Frans BL, Aalfs, Cora M, de Lange, JL, Meijers-Heijboer, Hanne EJ, van der Hout, Annemarie H, Wijnen, Juul T, van Roozendaal, KEP, Mensenkamp, Arjen R, van den Ouweland, Ans MW, van Deurzen, Carolien HM, van der Luijt, Rob B, Olah, Edith, Diez, Orland, Lazaro, Conxi, Blanco, Ignacio, Teulé, Alex, Menendez, Mireia, Jakubowska, Anna, Lubinski, Jan, Cybulski, Cezary, Gronwald, Jacek, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Arason, Adalgeir, Maugard, Christine, Soucy, Penny, Montagna, Marco, Agata, Simona, Teixeira, Manuel R, Olswold, Curtis, Lindor, Noralane, Pankratz, Vernon S, Hallberg, Emily, Wang, Xianshu, Szabo, Csilla I, Vijai, Joseph, Jacobs, Lauren, Corines, Marina, Lincoln, Anne, Berger, Andreas, Fink-Retter, Anneliese, Singer, Christian F, Rappaport, Christine, Kaulich, Daphne Gschwantler, Pfeiler, Georg, Tea, Muy-Kheng, Phelan, Catherine M, Mai, Phuong L, Greene, Mark H, Rennert, Gad, Imyanitov, Evgeny N, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Jensen, Uffe Birk, Caligo, Maria A, Friedman, Eitan, Berger, Raanan, Laitman, Yael, Rantala, Johanna, Arver, Brita, Loman, Niklas, Borg, Ake, Ehrencrona, Hans, Olopade, Olufunmilayo I, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Offit, Kenneth, Couch, Fergus J, Antoniou, Antonis C
Publicado 2014