Pierfranco Pignatti

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 242 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

A. Bonizzato, Elena Nicolis, Carlo Castellani et al. · Human Genetics · 1995 · 60 citations

Life Sciences, Genetics, Molecular Genetics +10

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis

Carlo Castellani, Macarena Gomez‐Lira, Luca Frulloni et al. · Human Mutation · 2001 · 53 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Paolo Gasparini, L. Borgato, Alberto Piperno et al. · Human Molecular Genetics · 1993 · 37 citations

Life Sciences, Genetics, Molecular Genetics +8

CACNA1E Variants Affect Beta Cell Function in Patients with Newly Diagnosed Type 2 Diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 3

Maddalena Trombetta, Sara Bonetti, MariaLinda Boselli et al. · PLoS ONE · 2012 · 35 citations · Full text

Medicine, Endocrinology, Genetics +16