Roberti 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: roberti 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

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. Among authors: roberti mc. 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

3

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: roberti mc. Cytogenet Genome Res. 2008;121(3-4):215-21. doi: 10.1159/000138888. Epub 2008 Aug 28. Cytogenet Genome Res. 2008. PMID: 18758162

4

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome.

Roberti MC, La Starza R, Surace C, Sirleto P, Pinto RM, Pierini V, Crescenzi B, Mecucci C, Angioni A. Roberti MC, et al. Virchows Arch. 2009 Mar;454(3):311-6. doi: 10.1007/s00428-009-0732-z. Epub 2009 Jan 28. Virchows Arch. 2009. PMID: 19184099

5

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: roberti mc. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

6

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.

Tomaiuolo AC, Alghisi F, Petrocchi S, Surace C, Roberti MC, Bella S, Lucidi V, Angioni A. Tomaiuolo AC, et al. Among authors: roberti mc. Clin Invest Med. 2010 Aug 1;33(4):E234-9. doi: 10.25011/cim.v33i4.14226. Clin Invest Med. 2010. PMID: 20691141

7

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Roberti MC, et al. Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17. Orphanet J Rare Dis. 2011. PMID: 21504564 Free PMC article.

8

Atrioventricular canal defect in patients with RASopathies.

Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: roberti mc. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.

9

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. Digilio MC, et al. Among authors: roberti mc. Clin Genet. 2013 Oct;84(4):362-7. doi: 10.1111/cge.12069. Epub 2012 Dec 28. Clin Genet. 2013. PMID: 23210894

10

Clinical Reasoning: a girl presenting with stiffness episodes during sleep, cafe-au-lait spots, and flecked retina.

Moavero R, Cusmai R, Roberti MC, Vigevano F, Curatolo P. Moavero R, et al. Among authors: roberti mc. Neurology. 2013 Jan 29;80(5):e42-6. doi: 10.1212/WNL.0b013e31827f1346. Neurology. 2013. PMID: 23359376

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