Tamara Brunelli

The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD).

Rosanna Abbate, Iacopo Sardi, Guglielmina Pepe et al. · PubMed · 1998 · 79 citations

Medicine, Cardiology, Genetics +16

Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility

Cinzia Fatini, Francesca Gensini, B. Battaglini et al. · Blood Coagulation & Fibrinolysis · 2000 · 74 citations · Full text

Medicine, Genetics, Obstetrics +12

The High Prevalence of Thermolabile 5-10 Methylenetetrahydrofolate Reductase (MTHFR) in Italians Is not Associated to an Increased Risk for Coronary Artery Disease (CAD)

Iacopo Sardi, Guglielmina Pepe, Rossella Marcucci et al. · Thrombosis and Haemostasis · 1998 · 70 citations

Medicine, Cardiology, Genetics +15

A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem Myopathy

Guglielmina Pepe, Betti Giusti, Enrico Bertini et al. · Biochemical and Biophysical Research Communications · 1999 · 53 citations

Life Sciences, Genetics, Molecular Genetics +14

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

Guglielmina Pepe, Enrico Bertini, Betti Giusti et al. · Neuromuscular Disorders · 1999 · 52 citations

Life Sciences, Genetics, Molecular Genetics +11