Digilio MC - Search Results

1

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

Limongelli G, Russo S, Digilio MC, Masciadri M, Pacileo G, Fratta F, Martone F, Maddaloni V, D'Alessandro R, Calabro P, Russo MG, Calabro R, Larizza L. Limongelli G, et al. Among authors: digilio mc. Am J Med Genet A. 2010 Aug;152A(8):2127-9. doi: 10.1002/ajmg.a.33486. Am J Med Genet A. 2010. PMID: 20635401 No abstract available.

2

Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence.

Digilio MC, Casey B, Toscano A, Calabrò R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B. Digilio MC, et al. Circulation. 2001 Dec 4;104(23):2809-14. doi: 10.1161/hc4701.099786. Circulation. 2001. PMID: 11733399

3

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B. Digilio MC, et al. Birth Defects Res A Clin Mol Teratol. 2004 Feb;70(2):95-8. doi: 10.1002/bdra.10148. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 14991917

4

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. J Med Genet. 2004 May;41(5):e68. doi: 10.1136/jmg.2003.013466. J Med Genet. 2004. PMID: 15121796 Free PMC article. No abstract available.

5

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

Piacentini G, Digilio MC, Capolino R, Zorzi AD, Toscano A, Sarkozy A, D'Agostino R, Marasini M, Russo MG, Dallapiccola B, Marino B. Piacentini G, et al. Among authors: digilio mc. Am J Med Genet A. 2005 Aug 30;137(2):176-80. doi: 10.1002/ajmg.a.30859. Am J Med Genet A. 2005. PMID: 16059940

6

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.

Sarkozy A, Esposito G, Conti E, Digilio MC, Marino B, Calabrò R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. Am J Med Genet A. 2005 Dec 15;139(3):236-8. doi: 10.1002/ajmg.a.31018. Am J Med Genet A. 2005. PMID: 16278904 No abstract available.

7

LEOPARD syndrome: clinical diagnosis in the first year of life.

Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B. Digilio MC, et al. Am J Med Genet A. 2006 Apr 1;140(7):740-6. doi: 10.1002/ajmg.a.31156. Am J Med Genet A. 2006. PMID: 16523510

8

Familial recurrence of anomalous origin of right pulmonary artery from the aorta.

Vergara P, Digilio MC, Limongelli G, Carotti A, Toscano A, Santoro G, Calabrò R, Marino B. Vergara P, et al. Among authors: digilio mc. Am J Med Genet A. 2006 Apr 1;140(7):794-6. doi: 10.1002/ajmg.a.31157. Am J Med Genet A. 2006. PMID: 16523515 No abstract available.

9

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B. Digilio MC, et al. Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30. Eur J Pediatr. 2006. PMID: 16733669

10

Diffuse coronary dilation in a young patient with LEOPARD syndrome.

Pacileo G, Calabrò P, Limongelli G, Santoro G, Digilio M, Sarkozy A, Marino B, Dallapiccola B, Calabrò R. Pacileo G, et al. Int J Cardiol. 2006 Sep 20;112(2):e35-7. doi: 10.1016/j.ijcard.2006.02.037. Epub 2006 Aug 10. Int J Cardiol. 2006. PMID: 16904216 No abstract available.

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