Simona Brioschi

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Jessica Caprioli, Marina Noris, Simona Brioschi et al. · Blood · 2006 · 729 citations · Full text

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Jessica Caprioli, Federica Castelletti, Sara Bucchioni et al. · Human Molecular Genetics · 2003 · 306 citations

Hla, Histocompatibility, Hf1 Mutations +20

Complement Factor H Mutation in Familial Thrombotic Thrombocytopenic Purpura with ADAMTS13 Deficiency and Renal Involvement

Marina Noris, Sara Bucchioni, Miriam Galbusera et al. · Journal of the American Society of Nephrology · 2005 · 136 citations

Glomerular Disease, Vasculitis, Genetics +21

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Matteo Bovolenta, Marcella Neri, Sergio Fini et al. · BMC Genomics · 2008 · 78 citations · Full text

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Simona Brioschi, Francesca Gualandi, C. Scotton et al. · BMC Medical Genetics · 2012 · 78 citations · Full text