Federica Sangiuolo

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo et al. · The American Journal of Human Genetics · 2002 · 532 citations · Full text

Lmna-encoding Lamin A/c, Mendelian Disorder, Genetic Disorder +3

Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting

Emanuela M. Bruscia, Federica Sangiuolo, P Sinibaldi et al. · Gene Therapy · 2002 · 152 citations

δF508-cftr Locus, Protein Function, Signal Transduction +14

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 145 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

In Vivo and In Vitro Studies Support That a New Splicing Isoform of <i>OLR1</i> Gene Is Protective Against Acute Myocardial Infarction

Ruggiero Mango, Silvia Biocca, Francesca Del Vecchio et al. · Circulation Research · 2005 · 119 citations · Full text

New Splicing Isoform, Vascular Disease, Genetics +20

The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences

Paolo Gasparini, Virginia Nunes, Anna Savoia et al. · Genomics · 1991 · 114 citations

New Mutations, Molecular Diagnostic Techniques, Mendelian Disorder +9