1989 …2020

Research output per year

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Research Output

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

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Amati, F., Mari, A., Digilio, M. C., Mingarelli, R., Marino, B., Giannotti, A., Novelli, G. & Dallapiccola, B., May 1995, In : Human Genetics. 95, 5, p. 479-482 4 p.

Research output: Contribution to journalArticle

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

Abitudini di vita e attività fisica del bambino operato per cardiopatia congenita.

Translated title of the contribution: The life style and physical activity of the child operated on for congenital cardiopathyDrago, F., Digilio, M. C., Giannico, S., Giannotti, A., Santilli, A., Turchetta, A. & Calzolari, A., Jun 1991, In : Minerva Pediatrica. 43, 6, p. 427-432 6 p.

Research output: Contribution to journalArticle

Acro-cardio-facial syndrome

Digilio, M. C. & Dallapiccola, B., 2010, In : Orphanet Journal of Rare Diseases. 5, 1, 25.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & Study, T. DDD., Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & The DDD Study, Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Cordeddu, V., Yin, J. C., Gunnarsson, C., Virtanen, C., Drunat, S., Lepri, F., De Luca, A., Rossi, C., Ciolfi, A., Pugh, T. J., Bruselles, A., Priest, J. R., Pennacchio, L. A., Lu, Z., Danesh, A., Quevedo, R., Hamid, A., Martinelli, S., Pantaleoni, F., Gnazzo, M. & 19 others, Daniele, P., Lissewski, C., Bocchinfuso, G., Stella, L., Odent, S., Philip, N., Faivre, L., Vlckova, M., Seemanova, E., Digilio, C., Zenker, M., Zampino, G., Verloes, A., Dallapiccola, B., Roberts, A. E., Cavé, H., Gelb, B. D., Neel, B. G. & Tartaglia, M., Nov 1 2015, In : Human Mutation. 36, 11, p. 1080-1087 8 p.

Research output: Contribution to journalArticle

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Flex, E., Jaiswal, M., Pantaleoni, F., Martinelli, S., Strullu, M., Fansa, E. K., Caye, A., De Luca, A., Lepri, F., Dvorsky, R., Pannone, L., Paolacci, S., Zhang, S. C., Fodale, V., Bocchinfuso, G., Rossi, C., Burkitt-Wright, E. M. M., Farrotti, A., Stellacci, E., Cecchetti, S. & 28 others, Ferese, R., Bottero, L., Castro, S., Fenneteau, O., Brethon, B., Sanchez, M., Roberts, A. E., Yntema, H. G., Van Der Burgt, I., Cianci, P., Bondeson, M. L., Digilio, M. C., Zampino, G., Kerr, B., Aoki, Y. K., Loh, M. L., Palleschi, A., Di Schiavi, E., Caré, A., Selicorni, A., Dallapiccola, B., Cirstea, I. C., Stella, L., Zenker, M., Gelb, B. D., Cavé, H., Ahmadian, M. R. & Tartaglia, M., 2014, In : Human Molecular Genetics. 23, 16, p. 4315-4327 13 p., ddu148.

Research output: Contribution to journalArticle

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Guida, V., Sinibaldi, L., Pagnoni, M., Bernardini, L., Loddo, S., Margiotti, K., Digilio, M. C., Fadda, M. T., Dallapiccola, B., Iannetti, G. & Alessandro, D. L., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 797-801 5 p.

Research output: Contribution to journalArticle

Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning

Armando, M., Girardi, P., Vicari, S., Menghini, D., Digilio, M. C., Pontillo, M., Saba, R., Mazzone, L., Lin, A., Klier, C. M., Schäfer, M. R. & Amminger, G. P., Aug 2012, In : Schizophrenia Research. 139, 1-3, p. 151-156 6 p.

Research output: Contribution to journalArticle

ALTERAZIONI IMMUNITARIE NELLA SINDROME DI DOWN

Translated title of the contribution: Alterations of the immune system in Down's syndromeMancini, S., Ciaffi, P., Giannotti, A., Crino, A., Digilio, M. C., Wietrzykowska, R., Spaini, A., Fierimonte, V. & Pichi, A., 1994, In : Aggiornamento Pediatrico. 45, 1-2, p. 35-40 6 p.

Research output: Contribution to journalArticle

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

Sabbaghian, N., Digilio, M. C., Blue, G. M., Revil, T., Winlaw, D. S. & Foulkes, W. D., May 2018, In : Congenital Heart Disease. 13, 3, p. 401-406 6 p.

Research output: Contribution to journalArticle

Anatomic patterns of conotruncal defects associated with deletion 22q11

Marino, B., Digilio, M. C., Toscano, A., Anaclerio, S., Giannotti, A., Feltri, C., De Ioris, M. A., Angioni, A. & Dallapiccola, B., 2001, In : Genetics in Medicine. 3, 1, p. 45-48 4 p.

Research output: Contribution to journalArticle

An integrated model of psychological diagnosis of children with genetic syndromes and their parents

Sergo, M., Caviglia, S., Dall'oglio, A. M., Gentile, S., Milani, L., Giannotti, A. & Digilio, C., 1997, In : Genetic Counseling. 8, 2, p. 182 1 p.

Research output: Contribution to journalArticle

Antiendomysial and antigliadin antibodies in patients with Down syndrome

Papadatou, B., Crinò, A., Giannotti, A., Ferretti, F., Colistro, F., Digilio, M. C., Ciampalini, P., Lucidi, V., Borelli, P. & Castro, M., 1996, In : Developmental Brain Dysfunction. 9, 2-3, p. 129-132 4 p.

Research output: Contribution to journalArticle

Antigliandin and antiendomysial antibodies in children with Down's syndrome

Papadatou, B., Ferretti, F., Giannotti, A., Colistro, F., Gambarara, M., Digilio, M. C. & Castro, M., 2000, In : Digestive and Liver Disease. 32, 5, p. 453 1 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

A restricted spectrum of NRAS mutations causes Noonan syndrome

Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C. & 11 others, Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jan 2010, In : Nature Genetics. 42, 1, p. 27-29 3 p.

Research output: Contribution to journalArticle

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Ciocca, L., Surace, C., Digilio, M. C., Roberti, M. C., Sirleto, P., Lombardo, A., Russo, S., Brizi, V., Grotta, S., Cini, C. & Angioni, A., 2013, In : BMC Medical Genomics. 6, 1, 3.

Research output: Contribution to journalArticle

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of fallot

Marino, B., Digilio, M. C., Grazioli, S., Formigari, R., Mingarelli, R., Giannotti, A. & Dallapiccola, B., 1996, In : The American Journal of Cardiology. 77, 7, p. 505-508 4 p.

Research output: Contribution to journalArticle

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

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Digilio, M. C., Marino, B., Giannotti, A., Mingarelli, R. & Dallapiccola, B., Jul 31 1995, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 58, 1, p. 97-98 2 p.

Research output: Contribution to journalArticle

Atrioventricular canal and 8p- syndrome [3]

Digilio, M. C., Giannotti, A., Marino, B. & Dallapiccola, B., 1993, In : American Journal of Medical Genetics. 47, 3, p. 437-438 2 p.

Research output: Contribution to journalArticle

Atrioventricular canal associated with trisomy 9

Marino, B., Digilio, M. C., Giannotti, A. & Dallapiccola, B., 1989, In : Chest. 96, 6, p. 1420-1421 2 p.

Research output: Contribution to journalArticle

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

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., May 3 2018, In : Clinical Genetics.

Research output: Contribution to journalReview article

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins

Digilio, M. C., Marino, B., Giannico, S., Giannotti, A. & Dallapiccola, B., 1999, In : Teratology. 60, 4, p. 206-208 3 p.

Research output: Contribution to journalArticle

Atrioventricular canal defect in patients with RASopathies

Digilio, M. C., Romana Lepri, F., Lisa Dentici, M., Henderson, A., Baban, A., Cristina Roberti, M., Capolino, R., Versacci, P., Surace, C., Angioni, A., Tartaglia, M., Marino, B. & Dallapiccola, B., Feb 2013, In : European Journal of Human Genetics. 21, 2, p. 200-204 5 p.

Research output: Contribution to journalArticle

Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

Digilio, M. C., Marino, B., Toscano, A., Giannotti, A. & Dallapiccola, B., 1999, In : American Journal of Medical Genetics. 85, 2, p. 140-146 7 p.

Research output: Contribution to journalArticle

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

Amati, F., Conti, E., Novelli, A., Bengala, M., Digilio, M. C., Marino, B., Giannotti, A., Gabrielli, O., Novelli, G. & Dallapiccola, B., 1999, In : European Journal of Human Genetics. 7, 8, p. 903-909 7 p.

Research output: Contribution to journalArticle

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome)

Digilio, M. C., Pacifico, C., Tieri, L., Marino, B., Giannotti, A. & Dallapiccola, B., 1999, In : British Journal of Audiology. 33, 5, p. 329-333 5 p.

Research output: Contribution to journalArticle

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

Di Cesare, S., Puliafito, P., Ariganello, P., Marcovecchio, G. E., Mandolesi, M., Capolino, R., Digilio, M. C., Aiuti, A., Rossi, P. & Cancrini, C., Sep 1 2015, In : Pediatric Allergy and Immunology. 26, 6, p. 591-594 4 p.

Research output: Contribution to journalArticle

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

Digilio, M. C., Marino, B., Cappa, M., Cambiaso, P., Giannotti, A. & Dallapiccola, B., 2001, In : Genetics in Medicine. 3, 1, p. 30-33 4 p.

Research output: Contribution to journalArticle

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

Guida, V., Ferese, R., Rocchetti, M., Bonetti, M., Sarkozy, A., Cecchetti, S., Gelmetti, V., Lepri, F., Copetti, M., Lamorte, G., Cristina Digilio, M., Marino, B., Zaza, A., Den Hertog, J., Dallapiccola, B. & De Luca, A., Jan 2013, In : European Journal of Human Genetics. 21, 1, p. 69-75 7 p.

Research output: Contribution to journalArticle