A. Tomaiuolo

发表

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.

V. Lucidi, S. Bella, C. Surace, 2010, Clinical and investigative medicine. Medecine clinique et experimentale.

Functional Characterization of Bifidobacteria of Human Origin: A Case Study by the Students of Food Science and Technology of the University of Foggia (Southern Italy)

Emanuela Ciuffreda, A. Bevilacqua, M. Sinigaglia, 2014 .

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Letizia Da Sacco, V. Raia, M. Lucarelli, 2018, Molecular Medicine.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

R. Cozza, M. D. De Ioris, F. Locatelli, 2015, BMC Cancer.

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

R. Cozza, M. D. De Ioris, F. Locatelli, 2015, BMC Cancer.

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

M. Digilio, R. Capolino, C. Surace, 2011, Orphanet journal of rare diseases.

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

F. Torricelli, V. Lucidi, C. Surace, 2011, Clinical biochemistry.

Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease

E. Bertini, C. Dionisi-Vici, S. Boenzi, 2009, Pediatric Research.

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Letizia Da Sacco, V. Raia, M. Lucarelli, 2018, Molecular medicine.

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

G. Castaldo, V. Lucidi, C. Surace, 2016, Molecular medicine.

Diagnosis of atypical CF: a case-report to reflect.

G. Novelli, V. Lucidi, S. Bella, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

V. Lucidi, C. Surace, A. Angioni, 2015, The Journal of molecular diagnostics : JMD.

Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.

G. Novelli, S. Gambardella, V. Lucidi, 2009, Pancreas.

A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis

C. Alicata, A. Tomaiuolo, Piera Bontempo, 2024, Biomedicines.