20172020

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Article

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B. & Baldini, A., Apr 1 2019, In : PLoS One. 14, 4, p. e0211170

Research output: Contribution to journalArticle

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Open Access
2018

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 1 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience

Baban, A., Cantarutti, N., Adorisio, R., Lombardi, R., Calcagni, G., Piano Mortari, E., Dallapiccola, B., Marino, B., Iorio, F. S., Carsetti, R., Digilio, M. C., Giannico, S., Drago, F. & Carotti, A., Oct 1 2018, In : International Journal of Cardiology. 268, p. 100-105 6 p.

Research output: Contribution to journalArticle

2017

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Calcagni, G., Limongelli, G., D'Ambrosio, A., Gesualdo, F., Digilio, M. C., Baban, A., Albanese, S. B., Versacci, P., De Luca, E., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Russo, M. G., Pacileo, G., Milanesi, O., Messina, D. & 7 others, Marasini, M., Cairello, F., Formigari, R., Brighenti, M., Dallapiccola, B., Tartaglia, M. & Marino, B., Oct 15 2017, In : International Journal of Cardiology. 245, p. 92-98 7 p.

Research output: Contribution to journalArticle