Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, M. Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, M. Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

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Cardiovascular malformations in Adams-Oliver syndrome by Digilio, M. Cristina, Marino, Bruno, Baban, Anwar, Dallapiccola, Bruno

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Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) by Digilio, M. Cristina, Calzolari, Flaminia, Capolino, Rossella, Toscano, Alessandra, Sarkozy, Anna, de Zorzi, Andrea, Dallapiccola, Bruno, Marino, Bruno

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Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome by Digilio, M. Cristina, Calcagni, Giulio, De Luca, Alessandro, Guida, Valentina, Marino, Bruno

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Familial recurrence of congenital heart disease : an overview and review of the literature by CALCAGNI, Giulio, DIGILIO, M. Cristina, SARKOZY, Anna, DALLAPICCOLA, Bruno, MARINO, Bruno

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects by Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P., Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D.A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

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Costello syndrome: clinical diagnosis in the first year of life by Digilio, M. Cristina, Sarkozy, Anna, Capolino, Rossella, Chiarini Testa, M. Beatrice, Esposito, Giorgia, de Zorzi, Andrea, Cutrera, Renato, Marino, Bruno, Dallapiccola, Bruno

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients by Herman, Sean B., Guo, Tingwei, McGinn, Donna M. McDonald, Blonska, Anna, Shanske, Alan L., Bassett, Anne S., Chow, Eva W.C., Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony, Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly S., Morrow, Bernice E.

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PTPN11 gene mutations : linking the Gln510Glu mutation to the LEOPARD syndrome phenotype by DIGILIO, M. Cristina, SARKOZY, Anna, PACILEO, Giuseppe, LIMONGELLI, Giuseppe, MARINO, Bruno, DALLAPICCOLA, Bruno

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Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations by Digilio, M. Cristina, Magliozzi, Monia, Di Pede, Alessandra, Valfrè, Laura, Dentici, Maria Lisa, Auriti, Cinzia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno

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Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction by Digilio, M. Cristina, Dallapiccola, Bruno, Marino, Bruno

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Hypoplastic left heart syndrome and 21q22.3 deletion by Ciocca, Laura, Digilio, M. Cristina, Lombardo, Antonietta, D'Elia, Gemma, Baban, Anwar, Capolino, Rossella, Petrocchi, Stefano, Russo, Serena, Sirleto, Pietro, Roberti, M. Cristina, Marino, Bruno, Angioni, Adriano, Dallapiccola, Bruno

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Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome by Digilio, M. Cristina, Versacci, Paolo, Bernardini, Laura, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome by Sarkozy, A, Conti, E, Digilio, M Cristina, Marino, B, Morini, E, Pacileo, G, Wilson, M, Calabrò, R, Pizzuti, A, Dallapiccola, B

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Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions by Kamien, Benjamin, Digilio, M. Cristina, Novelli, Antonio, O'Donnell, Sheridan, Bain, Nicole, Meldrum, Cliff, Dudding-Byth, Tracy, Scott, Rodney J, Goel, Himanshu

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS by Zhao, Yingjie, Wang, Yujue, Shi, Lijie, McDonald-McGinn, Donna M., Crowley, T. Blaine, McGinn, Daniel E., Tran, Oanh T., Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine, Johnston, H. Richard, Chow, Eva W. C., Vorstman, Jacob A. S., Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Eliez, Stephan, Schneider, Maude, van den Bree, Marianne B. M., Owen, Michael J., Kates, Wendy R., Repetto, Gabriela M., Shashi, Vandana, Schoch, Kelly, Bearden, Carrie E., Digilio, M. Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Pontillo, Maria, Armando, Marco, Vicari, Stefano, Angkustsiri, Kathleen, Campbell, Linda, Busa, Tiffany, Heine-Suñer, Damian, Murphy, Kieran C., Murphy, Declan, García-Miñaúr, Sixto, Fernández, Luis, Zhang, Zhengdong D., Goldmuntz, Elizabeth, Gur, Raquel E., Emanuel, Beverly S., Zheng, Deyou, Marshall, Christian R., Bassett, Anne S., Wang, Tao, Morrow, Bernice E.

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Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 by Digilio, M. Cristina, McDonald‐McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.

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LEOPARD syndrome: Clinical diagnosis in the first year of life by Digilio, M. Cristina, Sarkozy, Anna, de Zorzi, Andrea, Pacileo, Giuseppe, Limongelli, Giuseppe, Mingarelli, Rita, Calabrò, Raffaele, Marino, Bruno, Dallapiccola, Bruno

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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis by Digilio, M. Cristina, Bernardini, Laura, Consoli, Federica, Lepri, Francesca R, Giuffrida, M. Grazia, Baban, Anwar, Surace, Cecilia, Ferese, Rosangela, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome by Digilio, M. Cristina, Baban, Anwar, Marino, Bruno, Dallapiccola, Bruno

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