Tosi, Mario

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

Houdayer, C., Caux-Moncoutier, V., Krieger, S., Barrois, M., Bonnet, F., Bourdon, V., Bronner, M., Buisson, M., Coulet, F., Gaildrat, P., et al. (2012) · Human Mutation

BRCA gene mutations in cancerRNA Research and Splicing

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Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

Gaildrat, P., Killian, A., Martins, A., Tournier, I., Frébourg, T., & Tosi, M. (2010) · Methods in Molecular Biology

RNA Research and SplicingGenomics and Rare Diseases

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Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region.

Amor, M., Tosi, M., Duponchel, C., Steinmetz, M., & Meo, T. (1985) · Proceedings of the National Academy of Sciences

Pharmacogenetics and Drug MetabolismComplement system in diseases

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