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Items: 12

1.

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B.

Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Review.

PMID:
25663264
2.

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.

Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1.

3.

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

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A.

BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3.

4.

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.

Neurology. 2013 Jan 29;80(5):e42-6. doi: 10.1212/WNL.0b013e31827f1346.

PMID:
23359376
5.

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.

Clin Genet. 2013 Oct;84(4):362-7. doi: 10.1111/cge.12069. Epub 2012 Dec 28.

PMID:
23210894
6.

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.

Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11.

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.

Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17.

8.

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.

Clin Invest Med. 2010 Aug 1;33(4):E234-9.

PMID:
20691141
9.

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.

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

PMID:
19793054
10.

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.

Virchows Arch. 2009 Mar;454(3):311-6. doi: 10.1007/s00428-009-0732-z. Epub 2009 Jan 28.

PMID:
19184099
11.

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.

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

PMID:
18758162
12.

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.

Am J Med Genet A. 2005 Apr 15;134A(2):158-64.

PMID:
15669097

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