A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
Brusco, Alfredo, Savin, Elisa, Grosso, Enrico, Brussino, Alessandro, Calcia, Alessandro, Di Gregorio, Eleonora, Mandrile, Giorgia, Giachino, Daniela Francesca
Published in Case reports in genetics (01.01.2014)
Published in Case reports in genetics (01.01.2014)
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A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
Sirchia, Fabio, Di Gregorio, Eleonora, Restagno, Gabriella, Grosso, Enrico, Pappi, Patrizia, Talarico, Flavia, Savin, Elisa, Cavalieri, Simona, Giorgio, Elisa, Mancini, Cecilia, Pasini, Barbara, Mehta, Jodhbir S, Brusco, Alfredo
Published in European journal of medical genetics (01.04.2017)
Published in European journal of medical genetics (01.04.2017)
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De novo balanced chromosome rearrangements in prenatal diagnosis
Giardino, Daniela, Corti, Cecilia, Ballarati, Lucia, Colombo, Daniela, Sala, Elena, Villa, Nicoletta, Piombo, Giuseppe, Pierluigi, Mauro, Faravelli, Francesca, Guerneri, Silvana, Coviello, Domenico, Lalatta, Faustina, Cavallari, Ugo, Bellotti, Daniela, Barlati, Sergio, Croci, Gianfranco, Franchi, Fabrizia, Savin, Elisa, Nocera, Gianfranco, Amico, Francesco Paolo, Granata, Paola, Casalone, Rosario, Nutini, Lucia, Lisi, Ermanna, Torricelli, Francesca, Giussani, Ursula, Facchinetti, Barbara, Guanti, Ginevra, Di Giacomo, Marilena, Susca, Francesco Paolo, Pecile, Vanna, Romitti, Lorenza, Cardarelli, Laura, Racalbuto, Erika, Police, Maria Adalgisa, Chiodo, Francamaria, Rodeschini, Ornella, Falcone, Patrizia, Donti, Emilio, Grimoldi, Maria Grazia, Martinoli, Emanuela, Stioui, Sabine, Caufin, Daniele, Lauricella, Salvatrice Antonia, Tanzariello, Salvatrice Antonella, Voglino, Gianfranco, Lenzini, Elisabetta, Besozzi, Marco, Larizza, Lidia, Dalprà, Leda
Published in Prenatal diagnosis (01.03.2009)
Published in Prenatal diagnosis (01.03.2009)
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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D'Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Published in Molecular cytogenetics (19.11.2014)
Published in Molecular cytogenetics (19.11.2014)
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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
Di Gregorio, Eleonora, Gai, Giorgia, Botta, Giovanni, Calcia, Alessandro, Pappi, Patrizia, Talarico, Flavia, Savin, Elisa, Ribotta, Marisa, Zonta, Andrea, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Restagno, Gabriella, Ferrero, Giovanni B., Viora, Elsa, Pasini, Barbara, Grosso, Enrico, Brusco, Alfredo, Brussino, Alessandro
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories
Dalprà, Leda, Giardino, Daniela, Finelli, Palma, Corti, Cecilia, Valtorta, Chiara, Guerneri, Silvana, Ilardi, Patrizia, Fortuna, Renato, Coviello, Domenico, Nocera, Gianfranco, Amico, Francesco Paolo, Martinoli, Emanuela, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Chiodo, Francamaria, di Cantogno, Ludovica Verdun, Savin, Elisa, Croci, Gianfranco, Franchi, Fabrizia, Venti, Giovanna, Donti, Emilio, Migliori, Valeria, Pettinari, Antonella, Bonifacio, Stefania, Centrone, Claudia, Torricelli, Francesca, Rossi, Simona, Simi, Paolo, Granata, Paola, Casalone, Rosario, Lenzini, Elisabetta, Artifoni, Lina, Pecile, Vanna, Barlati, Sergio, Bellotti, Daniela, Caufin, Daniele, Police, Adalgisa, Cavani, Simona, Piombo, Giuseppe, Pierluigi, Mauro, Larizza, Lidia
Published in Genetics in medicine (01.11.2005)
Published in Genetics in medicine (01.11.2005)
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De novo balanced chromosome rearrangements in prenatal diagnosis
GIARDINO, Daniela, CORTI, Cecilia, COVIELLO, Domenico, LALATTA, Faustina, CAVALLARI, Ugo, BELLOTTI, Daniela, BARLATI, Sergio, CROCI, Gianfranco, FRANCHI, Fabrizia, SAVIN, Elisa, NOCERA, Gianfranco, PAOLO AMICO, Francesco, BALLARATI, Lucia, GRANATA, Paola, CASALONE, Rosario, NUTINI, Lucia, LISI, Ermanna, TORRICELLI, Francesca, GIUSSANI, Ursula, FACCHINETTI, Barbara, GUANTI, Ginevra, DI GIACOMO, Marilena, PAOLO SUSCA, Francesco, COLOMBO, Daniela, PECILE, Vanna, ROMITTI, Lorenza, CARDARELLI, Laura, RACALBUTO, Erika, ADALGISA POLICE, Maria, CHIODO, Francamaria, RODESCHINI, Ornella, FALCONE, Patrizia, DONTI, Emilio, GRAZIA GRIMOLDI, Maria, SALA, Elena, MARTINOLI, Emanuela, STIOUI, Sabine, CAUFIN, Daniele, LAURICELLA, Salvatrice Antonia, ANTONELLA TANZARIELLO, Salvatrice, VOGLINO, Gianfranco, LENZINI, Elisabetta, BESOZZI, Marco, LARIZZA, Lidia, DALPRA, Leda, VILLA, Nicoletta, PIOMBO, Giuseppe, PIERLUIGI, Mauro, FARAVELLI, Francesca, GUERNERI, Silvana
Published in Prenatal diagnosis (2009)
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Published in Prenatal diagnosis (2009)
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Ring chromosome in a patient with MEN IIA S
Temperani, Paola, Savin, Elisa, Aloesio, Roberto, Forabosco, Antonino
Published in Cancer genetics and cytogenetics (1989)
Published in Cancer genetics and cytogenetics (1989)
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