Mario Tosi

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

Emanuela Pappalardo, Marco Cicardi, Christiane Duponchel et al. · Journal of Allergy and Clinical Immunology · 2000 · 244 citations · Full text

C1inhibitor Gene, Exon Deletions, Genetics +4

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Claude Houdayer, Virginie Caux‐Moncoutier, Sophie Krieger et al. · Human Mutation · 2012 · 238 citations

Tissue-specific expression of mouse α-amylase genes

Ueli Schibler, Mario Tosi, Anne-Cécile Pittet et al. · Journal of Molecular Biology · 1980 · 194 citations

Protein Expression, Cellular Enzymology, Natural Sciences +5

Multiple polyadenylation sites in a mouse α-amylase gene

Mario Tosi, Richard A. Young, Otto Hagenbüchle et al. · Nucleic Acids Research · 1981 · 183 citations · Full text

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

Dominique Stoppa‐Lyonnet, P E Carter, T Meo et al. · Proceedings of the National Academy of Sciences · 1990 · 177 citations · Full text

Intragenic Alu Repeats, Genetics, Molecular Biology +18