Maria Claudia Montefusco

Application of Gene Network Analysis Techniques Identifies AXIN1/PDIA2 and Endoglin Haplotypes Associated with Bicuspid Aortic Valve

Eric C. Wooten, Lakshmanan K. Iyer, Maria Claudia Montefusco et al. · PLoS ONE · 2010 · 59 citations · Full text

Medicine, Cardiology, Genetics +16

ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial

Melissa Smart, Alyson Kelley-Hedgepeth, Maria Claudia Montefusco et al. · BMC Medical Genetics · 2011 · 37 citations · Full text

Medicine, Endocrinology, Cardiovascular Genetics +16

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta et al. · Blood · 2003 · 35 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta et al. · British Journal of Haematology · 2000 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Stefano Duga, Maria Claudia Montefusco, Rosanna Asselta et al. · Blood · 2002 · 28 citations · Full text

Life Sciences, Genetics, Molecular Biology +16