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[PTPN11 gene mutation in LEOPARD syndrome].
Paradisi M, Pedicelli C, Ciasulli A, Pinto F, Conti E, Sarkozy A, Angelo C. Paradisi M, et al. Among authors: sarkozy a. Minerva Pediatr. 2005 Aug;57(4):189-93. Minerva Pediatr. 2005. PMID: 16172598 Italian.
A novel PTPN11 mutation in LEOPARD syndrome.
Conti E, Dottorini T, Sarkozy A, Tiller GE, Esposito G, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: sarkozy a. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9149. Hum Mutat. 2003. PMID: 14961557
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: sarkozy a. 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
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. 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.
Hyperthrophic cardiomyopathy and the PTPN11 gene.
Sarkozy A, Conti E, Lepri FR, Pizzuti A, Dallapiccola B, Autore C, Tartaglia M. Sarkozy A, et al. Am J Med Genet A. 2005 Jul 1;136(1):93-4. doi: 10.1002/ajmg.a.30773. Am J Med Genet A. 2005. PMID: 15937948 No abstract available.
376 results