Moebius syndrome: clinical features, diagnosis, management and early intervention

por Picciolini, Odoardo, Porro, Matteo, Cattaneo, Elisa, Castelletti, Silvia, Masera, Giuseppe, Mosca, Fabio, Bedeschi, Maria Francesca
Publicado 2016

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

por Mameli, Chiara, Sangiorgio, Arianna, Colombo, Valeria, Gambino, Mirko, Spaccini, Luigina, Cattaneo, Elisa, Zuccotti, Gian Vincenzo
Publicado 2021

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

por Cococcioni, Lucia, Paccagnini, Susanna, Pozzi, Elena, Spaccini, Luigina, Cattaneo, Elisa, Redaelli, Serena, Crosti, Francesca, Zuccotti, Gian Vincenzo
Publicado 2018

The protein tyrosine phosphatase receptor type R gene is an early and frequent target of silencing in human colorectal tumorigenesis

por Menigatti, Mirco, Cattaneo, Elisa, Sabates-Bellver, Jacob, Ilinsky, Valery V, Went, Philip, Buffoli, Federico, Marquez, Victor E, Jiricny, Josef, Marra, Giancarlo
Publicado 2009

A comprehensive look at transcription factor gene expression changes in colorectal adenomas

por Vonlanthen, Janine, Okoniewski, Michal J, Menigatti, Mirco, Cattaneo, Elisa, Pellegrini-Ochsner, Daniela, Haider, Ritva, Jiricny, Josef, Staiano, Teresa, Buffoli, Federico, Marra, Giancarlo
Publicado 2014

Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

por Catucci, Irene, Colombo, Mara, Verderio, Paolo, Bernard, Loris, Ficarazzi, Filomena, Mariette, Frederique, Barile, Monica, Peissel, Bernard, Cattaneo, Elisa, Manoukian, Siranoush, Radice, Paolo, Peterlongo, Paolo
Publicado 2012

Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon

por Maglietta, Rosalia, Liuzzi, Vania Cosma, Cattaneo, Elisa, Laczko, Endre, Piepoli, Ada, Panza, Anna, Carella, Massimo, Palumbo, Orazio, Staiano, Teresa, Buffoli, Federico, Andriulli, Angelo, Marra, Giancarlo, Ancona, Nicola
Publicado 2012

Menkes disease complicated by concurrent ACY1 deficiency: A case report

por Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina
Publicado 2023

Preinvasive colorectal lesion transcriptomes correlate with endoscopic morphology (polypoid vs. nonpolypoid)

por Cattaneo, Elisa, Laczko, Endre, Buffoli, Federico, Zorzi, Fausto, Bianco, Maria Antonia, Menigatti, Mirco, Bartosova, Zdena, Haider, Ritva, Helmchen, Birgit, Sabates-Bellver, Jacob, Tiwari, Amit, Jiricny, Josef, Marra, Giancarlo
Publicado 2011

Natural history of non-lethal Raine syndrome during childhood

por Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuraya, Fowzan Sami, Kabra, Madhulika, Mercurio, Giuseppe, Zuccotti, Gianvincenzo
Publicado 2020

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

por Bonaventura, Eleonora, Alberti, Luisella, Lucchi, Simona, Cappelletti, Laura, Fazzone, Salvatore, Cattaneo, Elisa, Bellini, Matteo, Izzo, Giana, Parazzini, Cecilia, Bosetti, Alessandra, Di Profio, Elisabetta, Fiore, Giulia, Ferrario, Matilde, Mameli, Chiara, Sangiorgio, Arianna, Masnada, Silvia, Zuccotti, Gian Vincenzo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Verduci, Elvira, Cereda, Cristina, Tonduti, Davide
Publicado 2023

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

por Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma
Publicado 2022

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B...

por Mulligan, Anna Marie, Couch, Fergus J, Barrowdale, Daniel, Domchek, Susan M, Eccles, Diana, Nevanlinna, Heli, Ramus, Susan J, Robson, Mark, Sherman, Mark, Spurdle, Amanda B, Wappenschmidt, Barbara, Lee, Andrew, McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga M, Janavicius, Ramunas, Hansen, Thomas vO, Nielsen, Finn C, Ejlertsen, Bent, Osorio, Ana, Muñoz-Repeto, Iván, Durán, Mercedes, Godino, Javier, Pertesi, Maroulio, Benítez, Javier, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Bonanni, Bernardo, Viel, Alessandra, Pasini, Barbara, Papi, Laura, Ottini, Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Hamann, Ute, Verheus, Martijn, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez García, Encarna B, Nelen, Marcel R, Kets, C Marleen, Seynaeve, Caroline, Tilanus-Linthorst, Madeleine MA, van der Luijt, Rob B, Os, Theo van, Rookus, Matti, Frost, Debra, Jones, J Louise, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Adlard, Julian, Davidson, Rosemarie, Cook, Jackie, Donaldson, Alan, Dorkins, Huw, Gregory, Helen, Eason, Jacqueline, Houghton, Catherine, Barwell, Julian, Side, Lucy E, McCann, Emma, Murray, Alex, Peock, Susan, Godwin, Andrew K, Schmutzler, Rita K, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Kast, Karin, Preisler-Adams, Sabine, Varon-Mateeva, Raymonda, Schoenbuchner, Ines, Fiebig, Britta, Heinritz, Wolfram, Schäfer, Dieter, Gevensleben, Heidrun, Caux-Moncoutier, Virginie, Fassy-Colcombet, Marion, Cornelis, François, Mazoyer, Sylvie, Léoné, Mélanie, Boutry-Kryza, Nadia, Hardouin, Agnès, Berthet, Pascaline, Muller, Danièle, Fricker, Jean-Pierre, Mortemousque, Isabelle, Pujol, Pascal, Coupier, Isabelle, Lebrun, Marine, Kientz, Caroline, Longy, Michel, Sevenet, Nicolas, Stoppa-Lyonnet, Dominique, Isaacs, Claudine, Caldes, Trinidad, de la Hoya, Miguel, Heikkinen, Tuomas, Aittomäki, Kristiina, Blanco, Ignacio, Lazaro, Conxi, Barkardottir, Rosa B, Soucy, Penny, Dumont, Martine, Simard, Jacques, Montagna, Marco, Tognazzo, Silvia, D'Andrea, Emma, Fox, Stephen, Yan, Max, Rebbeck, Tim, Olopade, Olufunmilayo I, Weitzel, Jeffrey N, Lynch, Henry T, Ganz, Patricia A, Tomlinson, Gail E, Wang, Xianshu, Fredericksen, Zachary, Pankratz, Vernon S, Lindor, Noralane M, Szabo, Csilla, Offit, Kenneth, Sakr, Rita, Gaudet, Mia, Bhatia, Jasmine, Kauff, Noah, Singer, Christian F, Tea, Muy-Kheng, Gschwantler-Kaulich, Daphne, Fink-Retter, Anneliese, Mai, Phuong L, Greene, Mark H, Imyanitov, Evgeny, O'Malley, Frances P, Ozcelik, Hilmi, Glendon, Gordon, Toland, Amanda E, Gerdes, Anne-Marie, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Skytte, Anne-Bine, Caligo, Maria A, Soller, Maria, Henriksson, Karin, Wachenfeldt, von Anna, Arver, Brita, Stenmark-Askmalm, Marie, Karlsson, Per, Ding, Yuan Chun, Neuhausen, Susan L, Beattie, Mary, Pharoah, Paul DP, Moysich, Kirsten B, Nathanson, Katherine L, Karlan, Beth Y, Gross, Jenny, John, Esther M, Daly, Mary B, Buys, Saundra M, Southey, Melissa C, Hopper, John L, Terry, Mary Beth, Chung, Wendy, Miron, Alexander F, Goldgar, David, Chenevix-Trench, Georgia, Easton, Douglas F, Andrulis, Irene L, Antoniou, Antonis C
Publicado 2011