Pietro Stanziale

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Paolo Gasparini, Xavier Estivill, Antonio Totaro et al. · PubMed · 1997 · 109 citations

Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis

Francesco Perri, Ada Piepoli, Pietro Stanziale et al. · European Journal of Human Genetics · 2003 · 57 citations · Full text

Molecular Physiology, Signal Transduction, Genetics +8

High RAD51 mRNA expression characterize estrogen receptor‐positive/progesteron receptor‐negative breast cancer and is associated with patient's outcome

Raffaela Barbano, Massimiliano Copetti, Giuseppe Perrone et al. · International Journal of Cancer · 2010 · 47 citations

Tumor Biology, Breast Oncology, Breast Cancer Subgroup +15

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

Luigi Bisceglia, Lucia Fischetti, Patrizia De Bonis et al. · Molecular Genetics and Metabolism · 2009 · 34 citations

Allelic Variant, Somatic Variant, Point Mutations +10

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Michele Ciavarella, Michelina Coco, Filomena Baorda et al. · Gene · 2012 · 29 citations

Genetic Disorder, Medicine, Genetics +8