1989 …2020

Research output per year

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Research Output

2010

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Micale, L., Turturo, M. G., Fusco, C., Augello, B., Jurado, L. A. P., Izzi, C., Digilio, M. C., Milani, D., Lapi, E., Zelante, L. & Merla, G., Mar 2010, In : European Journal of Human Genetics. 18, 3, p. 317-323 7 p.

Research output: Contribution to journalArticle

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

Guida, V., Lepri, F., Vijzelaar, R., De Zorzi, A., Versacci, P., Digilio, M. C., Marino, B., De Luca, A. & Dallapiccola, B., 2010, In : Disease Markers. 28, 5, p. 287-292 6 p.

Research output: Contribution to journalArticle

Obituary of Dr. Angelo di George

Tarani, L., Digilio, M. C., Dallapiccola, B., Mc Donald-McGinn, D. M. & Marino, B., 2010, In : Italian Journal of Pediatrics. 36, 22, 22.

Research output: Contribution to journalArticle

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

Oliverio, M., Digilio, M. C., Versacci, P., Dallapiccola, B. & Marino, B., Oct 2010, In : American Journal of Medical Genetics, Part A. 152 A, 10, p. 2419-2425 7 p.

Research output: Contribution to journalArticle

2009

16p subtelomeric duplication: A clinically recognizable syndrome

Digilio, M. C., Bernardini, L., Capalbo, A., Capolino, R., Gagliardi, M. G., Marino, B., Novelli, A. & Dallapiccola, B., 2009, In : European Journal of Human Genetics. 17, 9, p. 1135-1140 6 p.

Research output: Contribution to journalArticle

Approccio multidisciplinare

Translated title of the contribution: Multidisciplinary approachBartuli, A., Bertini, E., Callea, F., Cappa, M., Caviglia, S., D'Argenio, P., De Benedetti, F., Digilio, M. C., Dionisi Vici, C., El Hachem, M., Emma, F., Nobili, V., Pagnotta, G. & Vignati, E., Dec 2009, In : Minerva Pediatrica. 61, 6, p. 689-691 3 p.

Research output: Contribution to journalArticle

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome

Dallapiccola, B., Digilio, M. C., Zatterale, A., Galeone, R., Capolino, R. & Mingarelli, R., Jul 2009, In : Clinical Dysmorphology. 18, 3, p. 135-138 4 p.

Research output: Contribution to journalArticle

Genetic syndromes and congenital heart defects: how is surgical management affected?

Formigari, R., Michielon, G., Digilio, M. C., Piacentini, G., Carotti, A., Giardini, A., Di Donato, R. M. & Marino, B., Apr 2009, In : European Journal of Cardio-thoracic Surgery. 35, 4, p. 606-614 9 p.

Research output: Contribution to journalArticle

Genotype-phenotype correlations in Noonan syndrome

Sarkozy, A., Digilio, M. C., Marino, B. & Dallapiccola, B., 2009, Monographs in Human Genetics. Vol. 17. p. 40-54 15 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., Mancini, G. M. S., Selicorni, A., Rossi, C., Mazzanti, L., Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L. & 7 others, Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., Gelb, B. D., Dallapiccola, B. & Tartaglia, M., Apr 2009, In : Human Mutation. 30, 4, p. 695-702 8 p.

Research output: Contribution to journalArticle

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Bernardini, L., Sinibaldi, L., Capalbo, A., Bottillo, I., Mancuso, B., Torres, B., Novelli, A., Digilio, M. C. & Dallapiccola, B., 2009, In : Clinical Genetics. 76, 1, p. 117-119 3 p.

Research output: Contribution to journalArticle

Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects

Michielon, G., Marino, B., Oricchio, G., Digilio, M. C., Iorio, F., Filippelli, S., Placidi, S. & Di Donato, R. M., Sep 2009, In : Journal of Thoracic and Cardiovascular Surgery. 138, 3

Research output: Contribution to journalArticle

LEOPARD syndrome: Clinical aspects and molecular pathogenesis

Sarkozy, A., Digilio, M. C., Zampino, G., Dallapiccola, B., Tartaglia, M. & Gelb, B. D., 2009, Monographs in Human Genetics. Vol. 17. p. 55-65 11 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Lisu: Limiti superabili. Indagine sulla qualità di vita delle persone con sindrome di down nel comune di roma riflessioni su un censimento

Translated title of the contribution: Lisu: Limits surmountable. Survey on the quality of life of people with Down syndrome in the Municipality of Rome reflections on a censusLuchino, F., Bertoli, M., Calignano, M. T., Celani, G., de Grossi, G., Digilio, M. C., Fermariello, C., Iraci, G., Loffredo, G., Marchese, A., Mazotti, S., Pierannunzio, D., Menghi, B., Razzano, E., Tiano, C., Volpe, R., Zambon, A. S. & Zampino, G., 2009, Quaderni ACP. 5 ed. Vol. 16. p. 194-202 9 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

Surace, C., Piazzolla, S., Sirleto, P., Digilio, M. C., Roberti, M. C., Lombardo, A., D'Elia, G., Tomaiuolo, A. C., Petrocchi, S., Capolino, R., El Hachem, M., Claps Sepulveda, D., Sgura, A. & Angioni, A., Sep 2009, In : Clinical Genetics. 76, 3, p. 256-262 7 p.

Research output: Contribution to journalArticle

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Cordeddu, V., Di Schiavi, E., Pennacchio, L. A., Ma'ayan, A., Sarkozy, A., Fodale, V., Cecchetti, S., Cardinale, A., Martin, J., Schackwitz, W., Lipzen, A., Zampino, G., Mazzanti, L., Digilio, M. C., Martinelli, S., Flex, E., Lepri, F., Bartholdi, D., Kutsche, K., Ferrero, G. B. & 11 others, Anichini, C., Selicorni, A., Rossi, C., Tenconi, R., Zenker, M., Merlo, D., Dallapiccola, B., Iyengar, R., Bazzicalupo, P., Gelb, B. D. & Tartaglia, M., Sep 2009, In : Nature Genetics. 41, 9, p. 1022-1026 5 p.

Research output: Contribution to journalArticle

New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

Del Pasqua, A., Rinelli, G., Toscano, A., Iacobelli, R., Digilio, C., Marino, B., Saffirio, C., Mondillo, S., Pasquini, L., Sanders, S. P. & De Zorzi, A., Oct 2009, In : Cardiology in the Young. 19, 6, p. 563-567 5 p.

Research output: Contribution to journalArticle

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

Dentici, M. L., Sarkozy, A., Pantaleoni, F., Carta, C., Lepri, F., Ferese, R., Cordeddu, V., Martinelli, S., Briuglia, S., Digilio, M. C., Zampino, G., Tartaglia, M. & Dallapiccola, B., 2009, In : European Journal of Human Genetics. 17, 6, p. 733-740 8 p.

Research output: Contribution to journalArticle

The heart in Ras-MAPK pathway disorders

Digilio, M. C., Marino, B., Sarkozy, A., Versacci, P. & Dallapiccola, B., 2009, Monographs in Human Genetics. Vol. 17. p. 109-118 10 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

Digilio, M. C., McDonald-McGinn, D. M., Heike, C., Catania, C., Dallapiccola, B., Marino, B. & Zackai, E. H., Dec 2009, In : American Journal of Medical Genetics, Part A. 149, 12, p. 2860-2864 5 p.

Research output: Contribution to journalArticle

2008

A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes

Cerrato, F., Pacileo, G., Limongelli, G., Gagliardi, M. G., Santoro, G., Digilio, M. C., Di Salvo, G., Ardorisio, R., Miele, T. & Calabrò, R., 2008, In : Cardiology in the Young. 18, 6, p. 575-580 6 p.

Research output: Contribution to journalArticle

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

Carotti, A., Digilio, M. C., Piacentini, G., Saffirio, C., Di Donato, R. M. & Marino, B., 2008, In : Developmental Disabilities Research Reviews. 14, 1, p. 35-42 8 p.

Research output: Contribution to journalArticle

Congenital diaphragmatic hernia in CHARGE syndrome

Casaccia, G., Digilio, M. C., Seymandi, P. L. & Bagolan, P., Mar 2008, In : Pediatric Surgery International. 24, 3, p. 375-378 4 p.

Research output: Contribution to journalArticle

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Digilio, M. C., Calzolari, F., Capolino, R., Toscano, A., Sarkozy, A., De Zorzi, A., Dallapiccola, B. & Marino, B., Jul 15 2008, In : American Journal of Medical Genetics, Part A. 146, 14, p. 1815-1819 5 p.

Research output: Contribution to journalArticle

Costello syndrome: Clinical diagnosis in the first year of life

Digilio, M. C., Sarkozy, A., Capolino, R., Chiarini Testa, M. B., Esposito, G., De Zorzi, A., Cutrera, R., Marino, B. & Dallapiccola, B., Jun 2008, In : European Journal of Pediatrics. 167, 6, p. 621-628 8 p.

Research output: Contribution to journalArticle

Deletion 22q11 and isolated congenital heart disease

Digilio, M. C., Marino, B. & Dallapiccola, B., Jan 24 2008, In : International Journal of Cardiology. 123, 3, p. 364-365 2 p.

Research output: Contribution to journalArticle

Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

Limongelli, G., Sarkozy, A., Pacileo, G., Calabrò, P., Digilio, M. C., Maddaloni, V., Gagliardi, G., Di Salvo, G., Iacomino, M., Marino, B., Dallapiccola, B. & Calabrò, R., Mar 1 2008, In : American Journal of Medical Genetics, Part A. 146, 5, p. 620-628 9 p.

Research output: Contribution to journalArticle

Leopard syndrome

Sarkozy, A., Digilio, M. C. & Dallapiccola, B., 2008, In : Orphanet Journal of Rare Diseases. 3, 1, 13.

Research output: Contribution to journalArticle

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

Surace, C., Digilio, M. C., Lombardo, A., Sirleto, P., Tomaiuolo, A. C., Roberti, M. C., Capolino, R. & Angioni, A., Aug 2008, In : Cytogenetic and Genome Research. 121, 3-4, p. 215-221 7 p.

Research output: Contribution to journalArticle

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

Mascheroni, E., Digilio, M. C., Cortis, E., Devito, R., Sarkozy, A., Capolino, R., Dallapiccola, B. & Ugazio, A. G., Nov 15 2008, In : American Journal of Medical Genetics, Part A. 146, 22, p. 2966-2967 2 p.

Research output: Contribution to journalArticle

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management

Limongelli, G., Pacileo, G., Digilio, M. C., Calabro', P., Di Salvo, G., Rea, A., Miele, T., Frigiola, A., Sarkozy, A., Dallapiccola, B., Marino, B. & Calabro', R., Nov 28 2008, In : International Journal of Cardiology. 130, 3

Research output: Contribution to journalArticle

Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman [2]

Limongelli, G., Pacileo, G., Melis, D., Calabro', P., Digilio, M. C., Sarkozy, A., Maddaloni, V., Capozzi, G., Sebastio, G., Andria, G. & Calabro', R., Feb 1 2008, In : American Journal of Medical Genetics, Part A. 146, 3, p. 327-329 3 p.

Research output: Contribution to journalArticle

2007

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

Marino, B., Digilio, M. C., Mileto, F., Conti, E. & Dallapiccola, B., Nov 16 2007, Cardiovascular Development and Congenital Malformations: Molecular & Genetic Mechanisms. Blackwell Publishing Ltd, p. 244-247 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes [1]

Sarkozy, A., Schirinzi, A., Lepri, F., Bottillo, I., De Luca, A., Pizzuti, A., Tartaglia, M., Digilio, M. C. & Dallapiccola, B., May 1 2007, In : American Journal of Medical Genetics, Part A. 143, 9, p. 1009-1011 3 p.

Research output: Contribution to journalArticle

Erratum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome (Nature Genetics DOI: 10.1038/ng1939)

Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., Ustaszewska, A., Martin, J., Bristow, J., Carta, C., Lepri, F., Neri, C., Vasta, I., Gibson, K., Curry, C. J., Siguero, J. P. L. & 5 others, Digilio, M. C., Zampino, G., Dallapiccola, B., Bar-Sagi, D. & Gelb, B. D., Feb 2007, In : Nature Genetics. 39, 2, p. 276 1 p.

Research output: Contribution to journalArticle

Familial recurrence of congenital heart disease: An overview and review of the literature

Calcagni, G., Digilio, M. C., Sarkozy, A., Dallapiccola, B. & Marino, B., Feb 2007, In : European Journal of Pediatrics. 166, 2, p. 111-116 6 p.

Research output: Contribution to journalArticle

Familial recurrence of discrete membranous subaortic stenosis

Piacentini, G., Marino, B. & Digilio, M. C., Sep 2007, In : Journal of Thoracic and Cardiovascular Surgery. 134, 3, p. 818-819 2 p.

Research output: Contribution to journalArticle

Familial Recurrence Risks of Congenital Heart Defects

Digilio, M. C., Marino, B., Capolino, R., Sarkozy, A. & Dallapiccola, B., Nov 16 2007, Cardiovascular Development and Congenital Malformations: Molecular & Genetic Mechanisms. Blackwell Publishing Ltd, p. 232-234 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., Bos, J. M., Ommen, S. R., Esposito, G., Lepri, F., Faul, C., Mundel, P., López Siguero, J. P., Tenconi, R., Selicorni, A., Rossi, C. & 9 others, Mazzanti, L., Torrente, I., Marino, B., Digilio, M. C., Zampino, G., Ackerman, M. J., Dallapiccola, B., Tartaglia, M. & Gelb, B. D., Aug 2007, In : Nature Genetics. 39, 8, p. 1007-1012 6 p.

Research output: Contribution to journalArticle

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., Ustaszewska, A., Martin, J., Bristow, J., Carta, C., Lepri, F., Neri, C., Vasta, I., Gibson, K., Curry, C. J., Siguero, J. P. L. & 5 others, Digilio, M. C., Zampino, G., Dallapiccola, B., Bar-Sagi, D. & Gelb, B. D., Jan 2007, In : Nature Genetics. 39, 1, p. 75-79 5 p.

Research output: Contribution to journalArticle

GATA4 as Candidate Gene for Pericardial Defects

Saffirio, C., Marino, B. & Digilio, M. C., Dec 2007, In : Annals of Thoracic Surgery. 84, 6, p. 2137 1 p.

Research output: Contribution to journalArticle

Genetics of congenital heart diseases in syndromic and non-syndromic patients: New advances and clinical implications

Piacentini, G., Digilio, M. C., Sarkozy, A., Placidi, S., Dallapiccola, B. & Marino, B., Jan 2007, In : Journal of Cardiovascular Medicine. 8, 1, p. 7-11 5 p.

Research output: Contribution to journalArticle

Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

Limongelli, G., Pacileo, G., Marino, B., Digilio, M. C., Sarkozy, A., Elliott, P., Versacci, P., Calabro, P., De Zorzi, A., Di Salvo, G., Syrris, P., Patton, M., McKenna, W. J., Dallapiccola, B. & Calabro, R., Aug 15 2007, In : The American Journal of Cardiology. 100, 4, p. 736-741 6 p.

Research output: Contribution to journalArticle

Thyroid Morphology and Subclinical Hypothyroidism in Children and Adolescents with Williams Syndrome

Cambiaso, P., Orazi, C., Digilio, M. C., Loche, S., Capolino, R., Tozzi, A., Faedda, A. & Cappa, M., Jan 2007, In : Journal of Pediatrics. 150, 1, p. 62-65 4 p.

Research output: Contribution to journalArticle

2006

22q11 Deletion syndrome: A review of some developmental biology aspects of the cardiovascular system

Restivo, A., Sarkozy, A., Digilio, M. C., Dallapiccola, B. & Marino, B., Feb 2006, In : Journal of Cardiovascular Medicine. 7, 2, p. 77-85 9 p.

Research output: Contribution to journalArticle