Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy
Bertoli, M., Biasini, G., Calignano, M. T., Celani, G., De Grossi, G., Digilio, M. C., Fermariello, C. C., Loffredo, G., Luchino, F., Marchese, A., Mazotti, S., Menghi, B., Razzano, C., Tiano, C., Zambon Hobart, A., Zampino, G., Zuccalà, G.
Published in Journal of intellectual disability research (01.08.2011)
Published in Journal of intellectual disability research (01.08.2011)
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Journal Article
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
De Luca, A, Sarkozy, A, Ferese, R, Consoli, F, Lepri, F, Dentici, ML, Vergara, P, De Zorzi, A, Versacci, P, Digilio, MC, Marino, B, Dallapiccola, B
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
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Journal Article
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
Howald, C, Merla, G, Digilio, M C, Amenta, S, Lyle, R, Deutsch, S, Choudhury, U, Bottani, A, Antonarakis, S E, Fryssira, H, Dallapiccola, B, Reymond, A
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Journal Article
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
Sarkozy, A, Conti, E, Neri, C, D’Agostino, R, Digilio, M C, Esposito, G, Toscano, A, Marino, B, Pizzuti, A, Dallapiccola, B
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Journal Article
Systemin Regulates Both Systemic and Volatile Signaling in Tomato Plants
Corrado, G, Sasso, R, Pasquariello, M, Iodice, L, Carretta, A, Cascone, P, Ariati, L, Digilio, M. C, Guerrieri, E, Rao, R
Published in Journal of chemical ecology (01.04.2007)
Published in Journal of chemical ecology (01.04.2007)
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Journal Article
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot
Guida, V, Chiappe, F, Ferese, R, Usala, G, Maestrale, G, Iannascoli, C, Bellacchio, E, Mingarelli, R, Digilio, MC, Marino, B, Uda, M, De Luca, A, Dallapiccola, B
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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Journal Article
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies
Digilio, MC, Bernardini, L, Gagliardi, MG, Versacci, P, Baban, A, Capolino, R, Dentici, ML, Roberti, MC, Angioni, A, Novelli, A, Marino, B, Dallapiccola, B
Published in Clinical genetics (01.10.2013)
Published in Clinical genetics (01.10.2013)
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Journal Article
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
Sarkozy, A, Conti, E, Seripa, D, Digilio, M C, Grifone, N, Tandoi, C, Fazio, V M, Di Ciommo, V, Marino, B, Pizzuti, A, Dallapiccola, B
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Journal Article
Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location
Surace, C, Piazzolla, S, Sirleto, P, Digilio, MC, Roberti, MC, Lombardo, A, D'Elia, G, Tomaiuolo, AC, Petrocchi, S, Capolino, R, El Hachem, M, Claps Sepulveda, D, Sgura, A, Angioni, A
Published in Clinical genetics (01.09.2009)
Published in Clinical genetics (01.09.2009)
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Journal Article
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
Marino, Bruno, Digilio, Maria Cristina, Toscano, Alessandra, Giannotti, Aldo, Dallapiccola, Bruno
Published in The Journal of pediatrics (01.12.1999)
Published in The Journal of pediatrics (01.12.1999)
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Journal Article
Thricho-rhino-phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates
Macchiaiolo, M., Mennini, M., Digilio, M.C., Buonuomo, P.S., Lepri, F.R., Gnazzo, M., Grandin, A., Angioni, A., Bartuli, A.
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
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Journal Article
Biased T‐cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
PIERDOMINICI, M., MAZZETTA, F., CAPRINI, E., MARZIALI, M., DIGILIO, M. C., MARINO, B., AIUTI, A., AMATI, F., RUSSO, G., NOVELLI, G., PANDOLFI, F., LUZI, G., GIOVANNETTI, A.
Published in Clinical and experimental immunology (01.05.2003)
Published in Clinical and experimental immunology (01.05.2003)
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Journal Article
Secondary metabolites from the endophytic fungus Talaromyces pinophilus
Vinale, F., Nicoletti, R., Lacatena, F., Marra, R., Sacco, A., Lombardi, N., d'Errico, G., Digilio, M. C., Lorito, M., Woo, S. L.
Published in Natural product research (01.08.2017)
Published in Natural product research (01.08.2017)
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Journal Article
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
Botta, A, Novelli, G, Mari, A, Novelli, A, Sabani, M, Korenberg, J, Osborne, L R, Digilio, M C, Giannotti, A, Dallapiccola, B
Published in Journal of medical genetics (01.06.1999)
Published in Journal of medical genetics (01.06.1999)
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Journal Article
Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review
Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
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.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Journal Article
Congenital heart defects in the recurrent 2q13 deletion syndrome
Digilio, M.C., Dentici, M.L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., Versacci, P.
Published in European journal of medical genetics (01.01.2022)
Published in European journal of medical genetics (01.01.2022)
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Journal Article
Coeliac disease in Williams syndrome
Giannotti, Aldo, Tiberio, Giovanni, Castro, Massimo, Virgilii, Fabio, Colistro, Franco, Ferretti, Francesca, Digilio, Maria Cristina, Gambarara, Manuela, Dallapiccola, Bruno
Published in Journal of medical genetics (01.11.2001)
Published in Journal of medical genetics (01.11.2001)
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