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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: digilio mc. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
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
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Among authors: digilio mc. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282
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: digilio mc. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
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. 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
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: digilio mc. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Cordeddu V, et al. Among authors: digilio mc. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16. Nat Genet. 2009. PMID: 19684605 Free PMC article.
424 results