Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype

por Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Chiarelli, Francesco, Seminara, Salvatore, de Martino, Maurizio
Publicado 2014

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

por Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara
Publicado 2010

Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quan...

por Pelosi, Paola, Lapi, Elisabetta, Cavalli, Loredana, Verrotti, Alberto, Pantaleo, Marilena, de Martino, Maurizio, Stagi, Stefano
Publicado 2017

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

por Stagi, Stefano, Lapi, Elisabetta, Seminara, Salvatore, Guarducci, Silvia, Pantaleo, Marilena, Giglio, Sabrina, Chiarelli, Francesco, de Martino, Maurizio
Publicado 2014

Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome

por Stagi, Stefano, Lapi, Elisabetta, Romano, Silvia, Bargiacchi, Sara, Brambilla, Alice, Giglio, Sabrina, Seminara, Salvatore, de Martino, Maurizio
Publicado 2015

Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review

por Stagi, Stefano, Traficante, Giovanna, Lapi, Elisabetta, Pantaleo, Marilena, Becciani, Sabrina, Mortilla, Marzia, Seminara, Salvatore, de Martino, Maurizio
Publicado 2015

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

por Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia
Publicado 2021

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

por Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Publicado 2015

Policaptil Gel Retard® significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with...

por Stagi, Stefano, Lapi, Elisabetta, Seminara, Salvatore, Pelosi, Paola, Del Greco, Paolo, Capirchio, Laura, Strano, Massimo, Giglio, Sabrina, Chiarelli, Francesco, de Martino, Maurizio
Publicado 2015

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

por Stagi, Stefano, Di Tommaso, Mariarosaria, Manoni, Cristina, Scalini, Perla, Chiarelli, Francesco, Verrotti, Alberto, Lapi, Elisabetta, Giglio, Sabrina, Dosa, Laura, de Martino, Maurizio
Publicado 2016

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome

por Stagi, Stefano, Lapi, Elisabetta, D’Avanzo, Maria Gabriella, Perferi, Giancarlo, Romano, Silvia, Giglio, Sabrina, Ricci, Silvia, Azzari, Chiara, Chiarelli, Francesco, Seminara, Salvatore, de Martino, Maurizio
Publicado 2014

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

por Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Publicado 2012

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

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

por Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
Publicado 2017

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado 2011