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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. Among authors: marino b. 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
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. Among authors: marino b. 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
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ, Dallapiccola B, Calabro R. Limongelli G, et al. Among authors: marino b. Am J Cardiol. 2007 Aug 15;100(4):736-41. doi: 10.1016/j.amjcard.2007.03.093. Epub 2007 Jun 27. Am J Cardiol. 2007. PMID: 17697839
Costello syndrome: clinical diagnosis in the first year of life.
Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, de Zorzi A, Cutrera R, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: marino b. Eur J Pediatr. 2008 Jun;167(6):621-8. doi: 10.1007/s00431-007-0558-0. Epub 2007 Aug 29. Eur J Pediatr. 2008. PMID: 17726614
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene.
Sarkozy A, Conti E, Esposito G, Pizzuti A, Dallapiccola B, Mingarelli R, Marino B, Digilio MC, Paoletti V. Sarkozy A, et al. Among authors: marino b. Am J Med Genet A. 2003 Feb 1;116A(4):389-90. doi: 10.1002/ajmg.a.10036. Am J Med Genet A. 2003. PMID: 12522798 No abstract available.
952 results