Zampino G - Search Results

1

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

Cesarini L, Alfieri P, Pantaleoni F, Vasta I, Cerutti M, Petrangeli V, Mariotti P, Leoni C, Ricci D, Vicari S, Selicorni A, Tartaglia M, Mercuri E, Zampino G. Cesarini L, et al. Among authors: zampino g. Am J Med Genet A. 2009 Feb;149A(2):140-6. doi: 10.1002/ajmg.a.32488. Am J Med Genet A. 2009. PMID: 19133693

2

Electroclinical patterns and evolution of epilepsy in the 4p- syndrome.

Battaglia D, Zampino G, Zollino M, Mariotti P, Acquafondata C, Lettori D, Pane M, Vasta I, Neri G, Dravet C, Guzzetta F. Battaglia D, et al. Among authors: zampino g. Epilepsia. 2003 Sep;44(9):1183-90. doi: 10.1046/j.1528-1157.2003.63502.x. Epilepsia. 2003. PMID: 12919390 Free article.

3

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy.

De Rosa G, Pardeo M, Bria S, Caresta E, Vasta I, Zampino G, Zollino M, Zuppa AA, Piastra M. De Rosa G, et al. Among authors: zampino g. Eur J Pediatr. 2005 Apr;164(4):255-6. doi: 10.1007/s00431-005-1620-4. Epub 2005 Jan 22. Eur J Pediatr. 2005. PMID: 15666158 No abstract available.

4

Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndrome.

Della Marca G, Rubino M, Vollono C, Vasta I, Scarano E, Mariotti P, Cianfoni A, Mennuni GF, Tonali P, Zampino G. Della Marca G, et al. Among authors: zampino g. Mov Disord. 2006 Apr;21(4):473-8. doi: 10.1002/mds.20741. Mov Disord. 2006. PMID: 16250029

5

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Tartaglia M, et al. Among authors: zampino g. Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7. Am J Hum Genet. 2006. PMID: 16358218 Free PMC article.

6

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: zampino g. 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.

7

Obstructive sleep apnea in Costello syndrome.

Della Marca G, Vasta I, Scarano E, Rigante M, De Feo E, Mariotti P, Rubino M, Vollono C, Mennuni GF, Tonali P, Zampino G. Della Marca G, et al. Among authors: zampino g. Am J Med Genet A. 2006 Feb 1;140(3):257-62. doi: 10.1002/ajmg.a.31076. Am J Med Genet A. 2006. PMID: 16419102

8

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Carta C, et al. Among authors: zampino g. Am J Hum Genet. 2006 Jul;79(1):129-35. doi: 10.1086/504394. Epub 2006 May 1. Am J Hum Genet. 2006. PMID: 16773572 Free PMC article.

9

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105

10

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: zampino g. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

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