• 22 Citations
  • 2 h-Index
20172019
If you made any changes in Pure these will be visible here soon.

Research Output 2017 2019

  • 22 Citations
  • 2 h-Index
  • 8 Article
  • 4 Review article
Filter
Article
2019

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

Research output: Contribution to journalArticle

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

DiGeorge Syndrome
pulmonary artery
Pulmonary Artery
Defects
mice
LEOPARD Syndrome
Hypertrophic Cardiomyopathy
Noonan Syndrome
Pediatrics
Mutation

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

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish
2 Citations (Scopus)

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

Missense Mutation
Calcineurin
Mutation
Atrioventricular Septal Defect
Zebrafish

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

Heterotaxy Syndrome
Survival
Spleen
Transplants
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
2017
13 Citations (Scopus)

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

Morbidity
Mortality
Mutation
Survival
Hypertrophic Cardiomyopathy