Conti E - 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: conti e. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

2

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B. Conti E, et al. Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956. Eur J Hum Genet. 2003. PMID: 12700609

3

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: conti e. 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

4

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.

5

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Digilio MC, et al. Among authors: conti e. Am J Hum Genet. 2002 Aug;71(2):389-94. doi: 10.1086/341528. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058348 Free PMC article.

6

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

7

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabrò R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: conti e. J Med Genet. 2004 May;41(5):e68. doi: 10.1136/jmg.2003.013466. J Med Genet. 2004. PMID: 15121796 Free PMC article. No abstract available.

8

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

9

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

Yagubyan M, Panneton JM, Lindor NM, Conti E, Sarkozy A, Pizzuti A. Yagubyan M, et al. Among authors: conti e. J Vasc Surg. 2004 Apr;39(4):897-900. doi: 10.1016/j.jvs.2003.11.030. J Vasc Surg. 2004. PMID: 15071461 Free article.

10

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

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