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Gianfranco Bocchinfuso
Gianfranco Bocchinfuso
Associate Professor - Chemistry Department - Rome Tor Vergata University
Verified email at uniroma2.it
Title
Cited by
Cited by
Year
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
M Tartaglia, S Martinelli, L Stella, G Bocchinfuso, E Flex, V Cordeddu, ...
The American Journal of Human Genetics 78 (2), 279-290, 2006
4202006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
C Carta, F Pantaleoni, G Bocchinfuso, L Stella, I Vasta, A Sarkozy, ...
The American Journal of Human Genetics 79 (1), 129-135, 2006
2642006
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ...
Nature genetics 47 (6), 661-667, 2015
2032015
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
E Flex, M Jaiswal, F Pantaleoni, S Martinelli, M Strullu, EK Fansa, A Caye, ...
Human molecular genetics 23 (16), 4315-4327, 2014
1542014
Scleroglucan: a versatile polysaccharide for modified drug delivery
T Coviello, A Palleschi, M Grassi, P Matricardi, G Bocchinfuso, F Alhaique
Molecules 10 (1), 6-33, 2005
1412005
A theoretical model for the prediction of sequence-dependent nucleosome thermodynamic stability
C Anselmi, G Bocchinfuso, P De Santis, M Savino, A Scipioni
Biophysical journal 79 (2), 601-613, 2000
1322000
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ...
The American Journal of Human Genetics 96 (5), 816-825, 2015
1222015
Different mechanisms of action of antimicrobial peptides: insights from fluorescence spectroscopy experiments and molecular dynamics simulations
G Bocchinfuso, A Palleschi, B Orioni, G Grande, F Formaggio, C Toniolo, ...
Journal of peptide science: an official publication of the European Peptide …, 2009
1092009
Dual role of DNA intrinsic curvature and flexibility in determining nucleosome stability
C Anselmi, G Bocchinfuso, P De Santis, M Savino, A Scipioni
Journal of molecular biology 286 (5), 1293-1301, 1999
1051999
Mutations in ZBTB20 cause Primrose syndrome
V Cordeddu, B Redeker, E Stellacci, A Jongejan, A Fragale, TEJ Bradley, ...
Nature genetics 46 (8), 815-817, 2014
982014
Carnitine palmitoyl transferase-1A (CPT1A): a new tumor specific target in human breast cancer
S Pucci, MJ Zonetti, T Fisco, C Polidoro, G Bocchinfuso, A Palleschi, ...
Oncotarget 7 (15), 19982, 2016
932016
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
S Martinelli, P Torreri, M Tinti, L Stella, G Bocchinfuso, E Flex, A Grottesi, ...
Human molecular genetics 17 (13), 2018-2029, 2008
932008
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
V Caputo, L Cianetti, M Niceta, C Carta, A Ciolfi, G Bocchinfuso, E Carrani, ...
The American Journal of Human Genetics 90 (1), 161-169, 2012
922012
Membrane perturbation by the antimicrobial peptide PMAP-23: a fluorescence and molecular dynamics study
B Orioni, G Bocchinfuso, JY Kim, A Palleschi, G Grande, S Bobone, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (7), 1523-1533, 2009
902009
Determination of total and polycyclic aromatic hydrocarbons in aviation jet fuel
M Bernabei, R Reda, R Galiero, G Bocchinfuso
Journal of Chromatography A 985, 197–203, 2003
902003
Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome
CK Bauer, P Calligari, FC Radio, V Caputo, ML Dentici, N Falah, F High, ...
The American Journal of Human Genetics 103 (4), 621-630, 2018
862018
Molecular dynamics investigations of the polysaccharide scleroglucan: first study on the triple helix structure
A Palleschi, G Bocchinfuso, T Coviello, F Alhaique
Carbohydrate research 340 (13), 2154-2162, 2005
862005
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
V Cordeddu, JC Yin, C Gunnarsson, C Virtanen, S Drunat, F Lepri, ...
Human mutation 36 (11), 1080-1087, 2015
842015
A new scleroglucan/borax hydrogel: swelling and drug release studies
T Coviello, M Grassi, A Palleschi, G Bocchinfuso, G Coluzzi, F Banishoeib, ...
International Journal of Pharmaceutics 289 (1-2), 97-107, 2005
752005
Membrane thickness and the mechanism of action of the short peptaibol trichogin GA IV
S Bobone, Y Gerelli, M De Zotti, G Bocchinfuso, A Farrotti, B Orioni, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1828 (3), 1013-1024, 2013
702013
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