Maria Pia Sperandeo

Multiple common variants for celiac disease influencing immune gene expression

P Dubois, Gosia Trynka, Lude Franke et al. · Nature Genetics · 2010 · 1.1K citations · Full text

Life Sciences, Genetics, Immunology +16

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo et al. · Nature Genetics · 1999 · 265 citations

Life Sciences, Molecular Biology, Molecular Genetics +2

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Gianfranco Sebastio, Maria Pia Sperandeo, Maria Panico et al. · PubMed · 1995 · 166 citations

Life Sciences, Genetics, Molecular Genetics +11

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni et al. · The American Journal of Human Genetics · 2000 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

R. de Franchis, Anna Buoninconti, Claudia Mandato et al. · Journal of Medical Genetics · 1998 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17