Digilio MC - Search Results

1

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A. Surace C, et al. Among authors: digilio mc. Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1. Epigenetics Chromatin. 2014. PMID: 24393457 Free PMC article.

2

Anatomic patterns of conotruncal defects associated with deletion 22q11.

Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Genet Med. 2001 Jan-Feb;3(1):45-8. doi: 10.1097/00125817-200101000-00010. Genet Med. 2001. PMID: 11339377 Free article.

3

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. Digilio MC, et al. Clin Genet. 2003 Apr;63(4):308-13. doi: 10.1034/j.1399-0004.2003.00049.x. Clin Genet. 2003. PMID: 12702165

4

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.

Digilio MC, Marino B, Capolino R, Angioni A, Sarkozy A, Roberti MC, Conti E, de Zorzi A, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2005 Apr 15;134A(2):158-64. doi: 10.1002/ajmg.a.30587. Am J Med Genet A. 2005. PMID: 15669097

5

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.

Sarkozy A, Lepri F, Marino B, Pizzuti A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. Am J Med Genet A. 2006 Sep 15;140(18):1970-2. doi: 10.1002/ajmg.a.31394. Am J Med Genet A. 2006. PMID: 16892325 No abstract available.

6

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

Surace C, Digilio MC, Lombardo A, Sirleto P, Tomaiuolo AC, Roberti MC, Capolino R, Angioni A. Surace C, et al. Among authors: digilio mc. Cytogenet Genome Res. 2008;121(3-4):215-21. doi: 10.1159/000138888. Epub 2008 Aug 28. Cytogenet Genome Res. 2008. PMID: 18758162

7

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

Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. Dentici ML, et al. Among authors: digilio mc. Eur J Hum Genet. 2009 Jun;17(6):733-40. doi: 10.1038/ejhg.2008.256. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156172 Free PMC article.

8

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. Surace C, et al. Among authors: digilio mc. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

9

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 MC, Marino B, De Luca A, Dallapiccola B. Guida V, et al. Among authors: digilio mc. Dis Markers. 2010;28(5):287-92. doi: 10.3233/DMA-2010-0703. Dis Markers. 2010. PMID: 20592452 Free PMC article.

10

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: digilio mc. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435

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