P. Stanziale

发表

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

A. Andriulli, A. Piepoli, F. Perri, 2003, European Journal of Human Genetics.

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.

M. Carella, B. Augello, L. Zelante, 2010, Molecular genetics and metabolism.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

G. Dedoussis, E. Pras, L. Zelante, 2008, Genetic testing.

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

X. Estivill, P. Fortina, S. Surrey, 1997, European journal of human genetics : EJHG.

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

M. Copetti, V. Pazienza, A. Mangia, 2011, International journal of cancer.

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

M. Copetti, V. Pazienza, G. Benegiamo, 2012, Molecular genetics and metabolism.

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.

M. Ciavarella, B. Pasini, M. Bengala, 2013, Gene.

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

E. Arbustini, E. Rappaport, P. Fortina, 1999, Journal of Medical Screening.

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.

L. Zelante, L. Bisceglia, M. Granatiero, 2005, Genetic testing.

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

P. Gasparini, L. Zelante, A. Croce, 1998, Journal of medical genetics.

MtDNA mutation associated with mitochondrial dysfunction in megakaryoblastic leukaemic cells

M. Ripoli, M. Carella, A. Tabilio, 2008, Leukemia.