Prevalence of maternal preconception risk factors: an Italian multicenter survey

Por Mastroiacovo, Pierpaolo, Nilsen, Roy Miodini, Leoncini, Emanuele, Gastaldi, Paolo, Allegri, Valentina, Boiani, Arianna, Faravelli, Francesca, Ferrazzoli, Federica, Guala, Andrea, Madrigali, Valeria, Scarano, Gioacchino
Publicado no Ital J Pediatr (2014)

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

Por Nilsen, Roy M., Leoncini, Emanuele, Gastaldi, Paolo, Allegri, Valentina, Agostino, Rocco, Faravelli, Francesca, Ferrazzoli, Federica, Finale, Enrico, Ghirri, Paolo, Scarano, Gioacchino, Mastroiacovo, Pierpaolo
Publicado no Ital J Pediatr (2016)

Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy

Por Santoro, Michele, Minichilli, Fabrizio, Pierini, Anna, Astolfi, Gianni, Bisceglia, Lucia, Carbone, Pietro, Conti, Susanna, Dardanoni, Gabriella, Iavarone, Ivano, Ricci, Paolo, Scarano, Gioacchino, Bianchi, Fabrizio
Publicado no Int J Environ Res Public Health (2017)

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Por Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
Publicado em 2010

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Por Russo, Silvia, Masciadri, Maura, Gervasini, Cristina, Azzollini, Jacopo, Cereda, Anna, Zampino, Giuseppe, Haas, Oskar, Scarano, Gioacchino, Di Rocco, Maja, Finelli, Palma, Tenconi, Romano, Selicorni, Angelo, Larizza, Lidia
Publicado em 2012

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a l...

Por Ritelli, Marco, Chiarelli, Nicola, Dordoni, Chiara, Reffo, Elena, Venturini, Marina, Quinzani, Stefano, Monica, Matteo Della, Scarano, Gioacchino, Santoro, Giuseppe, Russo, Maria Giovanna, Calzavara-Pinton, Piergiacomo, Milanesi, Ornella, Colombi, Marina
Publicado no BMC Med Genet (2014)

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Por Novelli, Giuseppe, Muchir, Antoine, Sangiuolo, Federica, Helbling-Leclerc, Anne, D’Apice, Maria Rosaria, Massart, Catherine, Capon, Francesca, Sbraccia, Paolo, Federici, Massimo, Lauro, Renato, Tudisco, Cosimo, Pallotta, Rosanna, Scarano, Gioacchino, Dallapiccola, Bruno, Merlini, Luciano, Bonne, Gisèle
Publicado em 2002

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Por Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Puliafito, Pamela, Azzari, Chiara, Bacchetta, Rosa, Cardinale, Fabio, Cicalese, Maria Pia, Consolini, Rita, Martino, Silvana, Martire, Baldassarre, Molinatto, Cristina, Plebani, Alessandro, Scarano, Gioacchino, Soresina, Annarosa, Cancrini, Caterina, Rossi, Paolo, Digilio, Maria Cristina, Pignata, Claudio
Publicado em 2014

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

Por Ballarati, Lucia, Rossi, Elena, Bonati, Maria Teresa, Gimelli, Stefania, Maraschio, Paola, Finelli, Palma, Giglio, Sabrina, Lapi, Elisabetta, Bedeschi, Maria Francesca, Guerneri, Silvana, Arrigo, Giulia, Patricelli, Maria Grazia, Mattina, Teresa, Guzzardi, Oriana, Pecile, Vanna, Police, Adalgisa, Scarano, Gioacchino, Larizza, Lidia, Zuffardi, Orsetta, Giardino, Daniela
Publicado em 2007

Molecular analysis of holoprosencephaly in South America

Por Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N., Castilla, Eduardo Enrique, Orioli, Iêda Maria
Publicado em 2014

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Por Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Berenice, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Queisser-Luft, Annette, Scarano, Gioacchino, Tucker, David
Publicado no Eur J Hum Genet (2014)

International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?

Por Botto, Lorenzo D, Lisi, Alessandra, Robert-Gnansia, Elisabeth, Erickson, J David, Vollset, Stein Emil, Mastroiacovo, Pierpaolo, Botting, Beverley, Cocchi, Guido, de Vigan, Catherine, de Walle, Hermien, Feijoo, Maria, Irgens, Lorentz M, McDonnell, Bob, Merlob, Paul, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Metneki, Julia, Stoll, Claude, Smithells, Richard, Goujard, Janine
Publicado em 2005

Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of...

Por Bermejo-Sánchez, Eva, Cuevas, Lourdes, Amar, Emmanuelle, Bianca, Sebastiano, Bianchi, Fabrizio, Botto, Lorenzo D., Canfield, Mark A., Castilla, Eduardo E., Clementi, Maurizio, Cocchi, Guido, Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Siffel, Csaba, Szabova, Elena, Martínez-Frías, María-Luisa
Publicado no Am J Med Genet C Semin Med Genet (2011)

Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

Por Orioli, Iêda M., Amar, Emmanuelle, Bakker, Marian K., Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Canfield, Mark A., Clementi, Maurizio, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Szabova, Elena, Castilla, Eduardo E.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Lite...

Por BERMEJO-SÁNCHEZ, EVA, CUEVAS, LOURDES, AMAR, EMMANUELLE, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BIANCHI, FABRIZIO, CANFIELD, MARK A., CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MASTROIACOVO, PIERPAOLO, MUTCHINICK, OSVALDO M., RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, MARTÍNEZ-FRÍAS, MARÍA-LUISA
Publicado no Am J Med Genet C Semin Med Genet (2011)

Sirenomelia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

Por ORIOLI, IÊDA M., AMAR, EMMANUELLE, ARTEAGA-VAZQUEZ, JAZMIN, BAKKER, MARIAN K., BIANCA, SEBASTIANO, BOTTO, LORENZO D., CLEMENTI, MAURIZIO, CORREA, ADOLFO, CSAKY-SZUNYOGH, MELINDA, LEONCINI, EMANUELE, LI, ZHU, LÓPEZ-CAMELO, JORGE S., LOWRY, R. BRIAN, MARENGO, LISA, MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, PIERINI, ANNA, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, CASTILLA, EDUARDO E.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

Por MUTCHINICK, OSVALDO M., LUNA-MUÑOZ, LEONORA, AMAR, EMMANUELLE, BAKKER, MARIAN K., CLEMENTI, MAURIZIO, COCCHI, GUIDO, DUTRA, MARIA DA GRAÇA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, BRIAN, MARENGO, LISA K., MARTÍNEZ-FRÍAS, MARÍA-LUISA, MASTROIACOVO, PIERPAOLO, MÉTNEKI, JULIA, MORGAN, MARGERY, PIERINI, ANNA, RISSMAN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SIFFEL, CSABA, SZABOVA, ELENA, ARTEAGA-VÁZQUEZ, JAZMÍN
Publicado no Am J Med Genet C Semin Med Genet (2011)

Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

Por SIFFEL, CSABA, CORREA, ADOLFO, AMAR, EMMANUELLE, BAKKER, MARIAN K., BERMEJO-SÁNCHEZ, EVA, BIANCA, SEBASTIANO, CASTILLA, EDUARDO E., CLEMENTI, MAURIZIO, COCCHI, GUIDO, CSÁKY-SZUNYOGH, MELINDA, FELDKAMP, MARCIA L., LANDAU, DANIELLE, LEONCINI, EMANUELE, LI, ZHU, LOWRY, R. BRIAN, MARENGO, LISA K., MASTROIACOVO, PIERPAOLO, MORGAN, MARGERY, MUTCHINICK, OSVALDO M., PIERINI, ANNA, RISSMANN, ANKE, RITVANEN, ANNUKKA, SCARANO, GIOACCHINO, SZABOVA, ELENA, OLNEY, RICHARD S.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Por Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Publicado no Hum Mutat (2014)

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Por Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, Monica, Matteo della, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe
Publicado em 2011