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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: conti e. 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.
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B. Sinibaldi L, et al. Among authors: conti e. Hum Mutat. 2004 Dec;24(6):534-5. doi: 10.1002/humu.9292. Hum Mutat. 2004. PMID: 15532024
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. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9149. Hum Mutat. 2003. PMID: 14961557
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B. Pizzuti A, et al. Among authors: conti e. Hum Mutat. 2003 Nov;22(5):372-7. doi: 10.1002/humu.10261. Hum Mutat. 2003. PMID: 14517948
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
Sarkozy A, Conti E, D'Agostino R, Digilio MC, Formigari R, Picchio F, Marino B, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: conti e. Am J Med Genet A. 2005 Feb 15;133A(1):68-70. doi: 10.1002/ajmg.a.30534. Am J Med Genet A. 2005. PMID: 15643620
674 results