Pantaleoni F - Search Results

1

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Motta M, et al. Among authors: pantaleoni f. Hum Mol Genet. 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. Hum Mol Genet. 2019. PMID: 30481304

2

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: pantaleoni f. 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.

3

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. Among authors: pantaleoni f. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105

4

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

Bocchinfuso G, Stella L, Martinelli S, Flex E, Carta C, Pantaleoni F, Pispisa B, Venanzi M, Tartaglia M, Palleschi A. Bocchinfuso G, et al. Among authors: pantaleoni f. Proteins. 2007 Mar 1;66(4):963-74. doi: 10.1002/prot.21050. Proteins. 2007. PMID: 17177198

5

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: pantaleoni f. 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

6

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. Dentici ML, et al. Among authors: pantaleoni f. Eur J Hum Genet. 2009 Jun;17(6):733-40. doi: 10.1038/ejhg.2008.256. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156172 Free PMC article.

7

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: pantaleoni f. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.

8

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, Di Rocco C, Kloska SP, Tartaglia M, Zenker M. Kratz CP, et al. Among authors: pantaleoni f. Am J Med Genet A. 2009 May;149A(5):1036-40. doi: 10.1002/ajmg.a.32786. Am J Med Genet A. 2009. PMID: 19396835

9

Visual function in Noonan and LEOPARD syndrome.

Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, Dickmann A, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E. Alfieri P, et al. Among authors: pantaleoni f. Neuropediatrics. 2008 Dec;39(6):335-40. doi: 10.1055/s-0029-1216354. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19568997

10

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. Cirstea IC, et al. Among authors: pantaleoni f. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Nat Genet. 2010. PMID: 19966803 Free PMC article.

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