Epigenetic control of the immune system: a lesson from Kabuki syndrome von Stagi, Stefano, Gulino, Anna Virginia, Lapi, Elisabetta, Rigante, Donato

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

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Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis von Stagi, Stefano, M.D, di Tommaso, Mariarosaria, M.D., Ph.D, Scalini, Perla, M.D, Lapi, Elisabetta, M.D, Losi, Stefania, M.D, Bencini, Erica, M.D, Masoni, Fabrizio, M.D, Dosa, Laura, M.D, Becciani, Sabrina, M.D, de Martino, Maurizio, M.D

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Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome von de Martino, Maurizio, Giglio, Sabrina, Brambilla, Alice, Bargiacchi, Sara, Romano, Silvia, Lapi, Elisabetta, Stagi, Stefano, Seminara, Salvatore

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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... von Pelosi, Paola, Lapi, Elisabetta, Cavalli, Loredana, Verrotti, Alberto, Pantaleo, Marilena, de Martino, Maurizio, Stagi, Stefano

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients von 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, della Monica, Matteo, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe

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Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome von de Martino, Maurizio, Dosa, Laura, Lapi, Elisabetta, Verrotti, Alberto, Chiarelli, Francesco, Scalini, Perla, Manoni, Cristina, Di Tommaso, Mariarosaria, Stagi, Stefano, Giglio, Sabrina

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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis von MICALE, Lucia, GIUSEPPINA TURTURO, Maria, MERLA, Giuseppe, FUSCO, Carmela, AUGELLO, Bartolomeo, PEREZ JURADO, Luis A, IZZI, Claudia, DIGILIO, Maria Cristina, MILANI, Donatella, LAPI, Elisabetta, ZELANTE, Leopoldo

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Mutations in the nebulin gene can cause severe congenital nemaline myopathy von Wallgren-Pettersson, Carina, Donner, Kati, Sewry, Caroline, Bijlsma, Emilia, Lammens, Martin, Bushby, Kate, Giovannucci Uzielli, Maria Luisa, Lapi, Elisabetta, Odent, Sylvie, Akcoren, Zuhal, Topaloğlu, Haluk, Pelin, Katarina

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Giant multiple bladder diverticula in Williams–Beuren syndrome von Stagi, Stefano, Lapi, Elisabetta, Martini, Edoardo, de Martino, Maurizio

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Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome von Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome von Pignata, Laura, Sparago, Angela, Palumbo, Orazio, Andreucci, Elena, Lapi, Elisabetta, Tenconi, Romano, Carella, Massimo, Riccio, Andrea, Cerrato, Flavia

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

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome von 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

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Williams-Beuren Syndrome Is a Genetic Disorder Associated with Impaired Glucose Tolerance and Diabetes in Childhood and Adolescence: New Insights from a Longitudinal Study von Stagi, Stefano, Lapi, Elisabetta, Cecchi, Cecilia, Chiarelli, Francesco, D'Avanzo, Maria Gabriella, Seminara, Salvatore, de Martino, Maurizio

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

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A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review von Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Traficante, Giovanna, Giglio, Sabrina, Seminara, Salvatore, de Martino, Maurizio

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Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype von Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Chiarelli, Francesco, Seminara, Salvatore, de Martino, Maurizio

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Bone status in genetic syndromes: A review von Stagi, Stefano, Iurato, Chiara, Lapi, Elisabetta, Cavalli, Loredana, Brandi, Maria Luisa, de Martino, Maurizio

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

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