Esposito G - Search Results

1

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: esposito g. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

2

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: esposito g. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9149. Hum Mutat. 2003. PMID: 14961557

3

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Sarkozy A, et al. Among authors: esposito g. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.

4

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.

Sarkozy A, Conti E, Neri C, D'Agostino R, Digilio MC, Esposito G, Toscano A, Marino B, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: esposito g. J Med Genet. 2005 Feb;42(2):e16. doi: 10.1136/jmg.2004.026740. J Med Genet. 2005. PMID: 15689439 Free PMC article. No abstract available.

5

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: esposito g. 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.

6

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: esposito g. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483

7

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: esposito g. 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

8

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: esposito g. 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.

9

Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.

Esposito G, Grutter G, Drago F, Costa MW, De Santis A, Bosco G, Marino B, Bellacchio E, Lepri F, Harvey RP, Sarkozy A, Dallapiccola B. Esposito G, et al. Am J Med Genet A. 2009 Jul;149A(7):1574-7. doi: 10.1002/ajmg.a.32907. Am J Med Genet A. 2009. PMID: 19533775 No abstract available.

10

Unmasking the risk: clinical trials versus real-world evidence on dydrogesterone and birth defects.

Parazzini F, Cantarutti A, Esposito G. Parazzini F, et al. Among authors: esposito g. Hum Reprod Open. 2024 Dec 24;2025(1):hoae073. doi: 10.1093/hropen/hoae073. eCollection 2025. Hum Reprod Open. 2024. PMID: 39807113 Free PMC article. No abstract available.

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