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Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: bocchinfuso g. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.
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: bocchinfuso 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.
Scleroglucan: a versatile polysaccharide for modified drug delivery.
Coviello T, Palleschi A, Grassi M, Matricardi P, Bocchinfuso G, Alhaique F. Coviello T, et al. Among authors: bocchinfuso g. Molecules. 2005 Jan 31;10(1):6-33. doi: 10.3390/10010006. Molecules. 2005. PMID: 18007275 Free PMC article. Review.
67 results