The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience

por Maghnie, Mohamad, Bruzzi, Paolo, Casilli, Giorgio, Lidonnici, Dario, Scarano, Gioacchino
Publicado 2023

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

por Tritto, Giovanna, Ricca, Ivana, Turi, Marco, Gemma, Andrea, Muratori, Filippo, Scarano, Gioacchino, Lonardo, Fortunato
Publicado 2021

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

por Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D’Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Publicado 2023

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 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 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 2017

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 2014

Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer

por Cecere, Francesco, Pignata, Laura, Hay Mele, Bruno, Saadat, Abu, D’Angelo, Emilia, Palumbo, Orazio, Palumbo, Pietro, Carella, Massimo, Scarano, Gioacchino, Rossi, Giovanni Battista, Angelini, Claudia, Sparago, Angela, Cerrato, Flavia, Riccio, Andrea
Publicado 2023

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

por Marzano, Flaviana, Chiara, Matteo, Consiglio, Arianna, D’Amato, Gabriele, Gentile, Mattia, Mirabelli, Valentina, Piane, Maria, Savio, Camilla, Fabiani, Marco, D’Elia, Domenica, Sbisà, Elisabetta, Scarano, Gioacchino, Lonardo, Fortunato, Tullo, Apollonia, Pesole, Graziano, Faienza, Maria Felicia
Publicado 2023

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

por Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria
Publicado 2022

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 2014

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

por Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Publicado 2021

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 2014

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 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 2011

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017