Marco SALVATORE

Scopus Publications

Real-World Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis: A 24-Month Italian National Registry Study
Donatello Salvatore, Giuseppe Campagna, Rita Padoan, Angela Pepe, Annalisa Amato, et al.
Journal of Clinical Medicine, 2026
Background: The CFTR modulator elexacaftor/tezacaftor/ivacaftor (ETI) has transformed cystic fibrosis (CF) care, but national-level real-world data on long-term effectiveness, durability of response, and treatment de-escalation remain limited. Methods: We conducted a nationwide longitudinal study using the Italian Cystic Fibrosis Registry. People with CF aged ≥6 years who initiated ETI between October 2019 and December 2022 and received ≥3 months of continuous therapy were included. Lung function (percent predicted FEV1, ppFEV1), nutritional status (BMI or BMI z-score), hospital days, complications, microbiology, and chronic treatments were assessed during the two years before and up to two years after ETI initiation. Longitudinal changes were analyzed using generalized estimating equations with multiple imputation for missing data. Results: The cohort included 2276 individuals (mean age 27.9 ± 13.3 years; 49% female). Mean ppFEV1 declined during the pre-ETI period but increased by 9.9 percentage points at 12 months after ETI initiation (p < 0.001) and remained 6.8 percentage points above baseline at 24 months. A decline between 12 and 24 months was observed overall, except in individuals with severe baseline lung disease (ppFEV1 < 40%), who maintained stable improvements. Mean annual hospital days decreased by approximately 65% and remained low throughout follow-up. Nutritional status improved, with a mean BMI increase of approximately 1.05 kg/m2 compared with immediate pre-treatment in adults and a BMI z-score increase of 0.2 SD compared with pre-treatment timepoints in children. Use of most standard CF therapies declined substantially, particularly among individuals with ppFEV1 ≥ 40%. The prevalence of allergic bronchopulmonary aspergillosis decreased, while liver disease prevalence increased modestly, largely reflecting transient elevations in liver enzymes. Conclusions: In this nationwide real-world cohort, ETI was associated with sustained improvements in lung function, nutritional status, and hospitalization burden. The attenuation of lung function gains after the first year, particularly in less severe disease, supports the need for individualized monitoring and cautious treatment de-escalation in the ETI era.
Pregnancies in women with cystic fibrosis in the era of CFTR modulators: Current challenges and future perspectives. Insights from the Italian cystic fibrosis registry
Marco Salvatore, Giuseppe Campagna, Annalisa Amato, Daniela Pierannunzio, Pietro Ripani, et al.
Journal of Cystic Fibrosis, 2026
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis
Giorgia Buoncuore, Marco Salvatore, Adele Rocchetti, Lorenzo Facciaroni, Edvige Veneselli, et al.
European Journal of Medical Genetics, 2026
Cardiological Manifestations in Males and Females Affected by NAA10-Related Disease
Irene Bottillo, Chiara De Luca, Angela Cordella, Marina Passeri, Marco Salvatore, et al.
American Journal of Medical Genetics Part A, 2025
We report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X‐linked NAA10 gene. Their mother was heterozygous for the variant and had a long history of unexplained cardiac arrhythmia. NAA10 (N‐alpha‐acetyltransferase 10) is a component of the N‐terminal acetyltransferase A complex (also called the NatA complex) necessary for N‐alpha‐acetylation, among the most common post‐translational protein modifications in eukaryotic cells. Deleterious variants in the X‐linked NAA10 gene cause a wide spectrum of clinical features, recently merged under the umbrella term of NAA10‐related disease, mainly featuring intellectual disability, seizures, visual and cardiac abnormalities. Congenital heart defects and cardiac dysfunction/arrhythmias emerged as a very common manifestations of the disease both in males and females described in the medical literature. While atrial and ventricular septal defects dominated at pediatric age in both sexes, hypertrophic cardiomyopathy, and prolonged QT were observed in adult males and females, respectively. Our observations may help in the early recognition of NAA10‐related disease based on previously underrecognized cardiac features, especially in females with unexplained arrhythmias and/or prolonged QT, and guide personalized management of this neglected condition.
Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants
Chiara De Luca, Arianna Di Daniele, Simone Marziali, Simonetta Picone, Marco Salvatore, et al.
Jacc Case Reports, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, et al.
Frontiers in Public Health, 2025
BackgroundUndiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.MethodsWe surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.ResultsThe survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.ConclusionA unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor.
Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study
Julie Semenchuk, Yumi Naito, Susan C. Charman, Siobhán B Carr, Stephanie Y. Cheng, et al.
Journal of Cystic Fibrosis, 2024
Nutritional Trends in Cystic Fibrosis: Insights from the Italian Cystic Fibrosis Patient Registry
Donatello Salvatore, Rita Padoan, Annalisa Amato, Marco Salvatore, Giuseppe Campagna, et al.
Journal of Clinical Medicine, 2024
Background: Over the past decades, efforts have been made to improve the nutritional well-being of people with cystic fibrosis (pwCF). Due to the correlation observed between nutritional indices and lung function, prevailing recommendations consistently advocate for BMI percentile goals at or above the 50th percentile in pwCF. Recent global trends show a notable increase in overweight and obese statuses among pwCF. This study aims to explore the nutritional status of Italian pwCF. Methods: Data from the Italian CF Patient’s Registry were analysed to assess the proportion of individuals categorized as underweight, target weight, overweight, and obese from 2010 to 2021. Patient-level comparison data from 2021 were also examined to identify the potential determinants of overweight and obesity. Results: Analysis spanning 2010 to 2021 reveals a decrease of approximately 40% in underweight status among adults, while the proportion of malnourished patients younger than 18 years remained stable. Conversely, there was a substantial increase of over 70% in overweight status and over 85% in obesity among adults, with minor fluctuations observed among children and adolescents. Patient factors associated with increased obesity incidence included age older than 45 years, male gender, pancreatic sufficiency, possession of at least one CFTR variant conferring residual function, ppFEV1 > 90, and lower prevalence of Pseudomonas aeruginosa colonization. Conclusions: Our study confirms the evolving nutritional status landscape among Italian adult pwCF, with a significant shift towards overweight and obesity over the past decade. These trends highlight the need for proactive measures within CF standards of care to adapt and address the changing needs of patients.
The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form
Natalia Cirilli, Giovanna Floridia, Annalisa Amato, Rita Padoan, Federica Censi, et al.
Practical Laboratory Medicine, 2024
Italian Cystic Fibrosis Registry (ICFR). Report 2021-2022
Giuseppe Campagna, A. Amato, Fabio Majo, G. Ferrari, S. Quattrucci, et al.
Epidemiologia E Prevenzione, 2024
INTRODUCTION Italian Cystic Fibrosis Registry (ICFR) collects data of patients with cystic fibrosis (CF) through the collaboration with Italian CF referral and support Centres (Italian law 548/93). It aims at analysing medium and long-term clinical and epidemiological trends, identifying healthcare needs at regional and national levels, contributing to healthcare programmes, and resource allocation. Italian data are also compared at international level through the collaboration with the European CF Registry for sharing epidemiological data on general aspects like CF epidemiology and specific topics such as the use of CFTR modulators. OBJECTIVES The purpose of this Report is to provide updated demographic and clinical data of the Italian FC population for the years 2021 and 2022, to contribute essential information for the implementation of projects aimed at improving the management of patients affected by this disease. DESIGN Analyses and results presented in this Report pertain to patients currently under care at Italian National Referral and Support Centres for Cystic Fibrosis and Paediatric Hospital 'Bambino Gesù' in the 2021-2022 period. Data were submitted by clinical Centres through a dedicated web-based software and underwent dual quality control (QC) measures: automated quantitative QC within the software and secondary QC at the European level before the integration into the European Cystic Fibrosis Registry. These measures ensure data completeness, accuracy, and longitudinal consistency with European core data. SETTING AND PARTICIPANTS A total of 27 CF Centres, including referral and support centres, as well as 'Bambino Gesù' Children's Hospital CF centre, submitted their data to ICFR for the years 2021-2022. Althourgh CF Centres in Verona and Messina do not use the ICFR software, their data are centrally collected and subsequently forwarded to the European Registry. Data from service centres in Treviso and Rovereto are transmitted via the Verona CF Centre. Data from Sardinia Centre are currently unavailable. RESULTS The results section provides a comprehensive overview of various aspects of CF epidemiology and patient characteristics. 1.Demography: in 2021 and 2022, 5,977 and 6,077 CF patients were respectively included in the ICFR, with median ages of 23.3 and 23.7 years. The prevalence rates were 10.1 and 10.3 per 100,000 residents in Italy for the respective years, with males comprising 51.6% on average. The distribution by age showed a higher frequency among patients aged 7 to 35 years; adult patients constituted 63.5% on average in both years. 2. Diagnosis: most CF patients were diagnosed before the age of two (mean value 57.9%), with a significant percentage diagnosed in adult age (35.4% in 2021 and 25.6% in 2022). 3.New diagnoses: there were 113 new diagnoses in 2021 and 121 in 2022, with estimated incidences of 1 in 9,097 living births in 2021 and 1 in 6,232 in 2022. 4. Genetics: genetic analyses were conducted on 99.9% of patients, revealing CFTR gene mutations in over 98% of cases. The F508del mutation was the most common (44% of alleles in 2021), with 18% of patients having at least one "residual function" mutation. Gating mutations were present in 3.4% of Italian patients, while 20% had at least one-stop codon mutation. 5.Lung function: lung function, measured by percent predicted (pp)FEV1 (Forced Expiratory Volume in the first second) progressively declined before adulthood, with the majority of paediatric patients (92.8% in 2021 and 93.8% in 2022) maintaining a ppFEV1≥70%. 6.Nutrition: critical periods for nutrition were identified as the first 6 months of life and adolescence, with higher prevalence of malnourished male adolescents compared to females. Suboptimal BMI values were more common in adult females (28.7% in 2021 and 26.9% in 2022) compared to males (14.2% in 2021 and 12.6% in 2022). 7. Complications: CF-related liver disease without cirrhosis was prevalent in patients under 18 years (21.9% in 2021 and 21.2 in 2022), while CF-related diabetes was most frequent in adults (24.2%). 8.Transplantation: over the two-year period, 28 patients underwent double-lung transplantation, with median ages of 29.1 in 2021 and 35.3 in 2022, respectively. Median waiting times ranged from 9.4 to 11.6 months. 9.Microbiology: chronic Pseudomonas aeruginosa infection affected 37.2% of adult patients in 2021 and 36.0% in 2022, compared to 7.4% and 6.5% in paediatric patients. Staphylococcus aureus infection rates were 34.6% and 42.2% in 2021 among adults and 34.4% and 36.7% in 2022 among paediatric patients. 10. Mortality: a total of 34 patients died during the 2021-22 period (19 females, 15 males), with median ages at death of 43.7 years in 2021 and 46 years in 2022 (excluding transplanted patients). CONCLUSIONS The present Report is an update of the data published in the past years and summarizes the main epidemiological and clinical data regarding Italian CF subjects in the years 2021 and 2022. The number of patients registered in 2021 was 5,977, while in 2022 was 6,077. The population coverage estimates for 2022 to be around 97%. In 2020, 60.5% of patients were older than 18 years, in 2022 adult patients account for 63.5% of the Italian CF population. Over the years, therefore, an increase in the median age of Italian CF patients has been observed, reaching 23.7 years in 2022. The absolute number of new diagnoses per year remains substantially unchanged over the years (a total of 234 in the period under review). The median age at diagnosis in 2022 was 2.5 months, 62.6% of subjects are really diagnosed within the first year of life and almost 90% of them are diagnosed through neonatal screening. In 2022, almost all patients underwent genetic analysis (99.9%). Data collected confirm the great variability among Italian CF patients. As regards respiratory function, what is reported in previous reports is here confirmed, with an ever-increasing percentage of subjects under the age of 18 having normal respiratory function, moreover, less than 1% of paediatric patients has a severe lung function (ppFEV1<40). The marked improvement in this indicator in the adult population seems to be mainly due to the introduction from 2021 in Italy of therapy with highly effective CFTR modulators. At the same time, the close positive correlation between nutritional status and respiratory function is confirmed for the adult population. As regards chronic infection by Pseudomonas aeruginosa, in 2022, a reduction in the percentage of chronic infection is observed both among adults (36% vs 38.8% in 2020) and in paediatric patients (6.5% vs 7.6% in 2020). The most frequent complication in both paediatric and adult populations is liver disease (respectively, in 24.2% and 41.3% of subjects). In the two-year period, 34 patients died; their median age at death was between 43 and 46 years (transplant patients excluded); only two patients under the age of 18 died in the period 2021 and 2022, confirming once again that mortality in paediatric age is a rare event. The data presented in this Report shows how the register can be a national and international point of reference for CF patients and the scientific community, a tool for describing the Italian CF population over the years, and a starting point for planning epidemiological studies and clinical studies.
The Italian registry for patients with Prader–Willi syndrome
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, et al.
Orphanet Journal of Rare Diseases, 2023
Hidden CFSPID in CF patient registries? The Italian CF Registry experience
V Terlizzi, R Padoan, A Amato, G Campagna, C Castellani, et al.
Journal of Cystic Fibrosis, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, et al.
Frontiers in Public Health, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, et al.
Frontiers in Public Health, 2023
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
Paola Fortugno, Rosanna Monetta, Manuel Belli, Elisabetta Botti, Francesco Angelucci, et al.
Human Molecular Genetics, 2022
Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study
Siobhán B Carr, Elliot McClenaghan, Alexander Elbert, Albert Faro, Rebecca Cosgriff, et al.
Journal of Cystic Fibrosis, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Donatello Salvatore, Angela Pepe, Vincenzo Carnovale, Fabio Majo, Rita Padoan, et al.
Journal of Cystic Fibrosis, 2022
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation
Pedro Mondejar-Lopez, Anna Zolin, Patricia W. Garcia-Marcos, Mª Dolores Pastor-Vivero, Maria Rosa-Silvestre, et al.
Respiratory Medicine, 2022
Italian Cystic Fibrosis Registry (ICFR) Report 2019-2020
G. Campagna, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, et al.
Epidemiologia E Prevenzione, 2022
Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry
Donatello Salvatore, Vincenzo Carnovale, Fabio Majo, Rita Padoan, Serena Quattrucci, et al.
Pediatric Pulmonology, 2021
Perinatal outcomes in women with cystic fibrosis: Data from the Italian Cystic Fibrosis Registry
Rita F. Padoan, Serena Quattrucci, Annalisa Amato, Marco Salvatore, Donatello Salvatore, et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2021
COVID-19 vaccine prioritisation for people with cystic fibrosis
Siobhán B Carr, Rebecca Cosgriff, Satenik Harutyunyan, Peter G Middleton, Rasa Ruseckaite, et al.
Journal of Cystic Fibrosis, 2021
Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020
Lutz Naehrlich, Annalisa Orenti, Fiona Dunlevy, Irena Kasmi, Satenik Harutyunyan, et al.
Journal of Cystic Fibrosis, 2021
First and second wave of SARS-CoV2 in Italian Cystic Fibrosis patients: Data from Italian Cystic Fibrosis Registry
Rita Padoan, V Carnovale, D Salvatore, S Quattrucci, D Taruscio, et al.
Journal of Cystic Fibrosis, 2021
The diagnosis of cystic fibrosis in adult age. Data from the italian registry
Rita Padoan, Serena Quattrucci, Annalisa Amato, Vincenzo Carnovale, Donatello Salvatore, et al.
Diagnostics, 2021
Cystic fibrosis with non-G551D gating mutations in Italy: Epidemiology and clinical characteristics
Donatello Salvatore, Vincenzo Carnovale, Fabio Majo, Rita Padoan, Marco Salvatore, et al.
Pediatric Pulmonology, 2021
Clinical characteristics of SARS-CoV-2 infection in children with cystic fibrosis: An international observational study
Robert Bain, Rebecca Cosgriff, Marco Zampoli, Alexander Elbert, Pierre-Régis Burgel, et al.
Journal of Cystic Fibrosis, 2021
Italian cystic fibrosis registry (ICFR): Report 2017-2018
G. Campagna, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, et al.
Epidemiologia E Prevenzione, 2021
The global impact of SARS-CoV-2 in 181 people with cystic fibrosis
Elliot McClenaghan, Rebecca Cosgriff, Keith Brownlee, Susannah Ahern, Pierre-Régis Burgel, et al.
Journal of Cystic Fibrosis, 2020
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis
Lucia Micale, Samantha Cialfi, Carmela Fusco, Luigia Cinque, Stefano Castellana, et al.
Human Molecular Genetics, 2020
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network
Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, et al.
Italian Journal of Pediatrics, 2020
The Italian external quality assessment program for cystic fibrosis sweat chloride test: Does active participation improve the quality?
Marco Salvatore, Annalisa Amato, Giovanna Floridia, Federica Censi, Gianluca Ferrari, et al.
International Journal of Environmental Research and Public Health, 2020
The Undiagnosed Diseases Network International: Five years and more!
D. Taruscio, G. Baynam, H. Cederroth, S.C. Groft, E.W. Klee, et al.
Molecular Genetics and Metabolism, 2020
Homozygous recessive versican missense variation is associated with early teeth loss in a pakistani family
Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, et al.
Frontiers in Genetics, 2019
Italian cystic fibrosis registry (ICFR): Report 2015-2016
Epidemiologia E Prevenzione, 2019
A case-control study on pregnancy in Italian Cystic Fibrosis women. Data from the Italian Registry
B. Giordani, S. Quattrucci, A. Amato, M. Salvatore, R. Padoan
Respiratory Medicine, 2018
Meeting patients’ right to the correct diagnosis: Ongoing international initiatives on undiagnosed rare diseases and ethical and social issues
Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, et al.
International Journal of Environmental Research and Public Health, 2018
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
Undiagnosed Disease Network Italy, Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, et al.
European Journal of Human Genetics, 2018
The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria
Annali Dell Istituto Superiore Di Sanita, 2018
Italian cystic fibrosis registry report 2011-2014
Epidemiologia E Prevenzione, 2018
Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis
Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl
Advances in Experimental Medicine and Biology, 2017
Italian external quality assessment program for cystic fibrosis sweat chloride test: A 2015 and 2016 results comparison
Annali Dell Istituto Superiore Di Sanita, 2017
The Italian pilot external quality assessment program for cystic fibrosis sweat test
Marco Salvatore, Giovanna Floridia, Annalisa Amato, Federica Censi, Claudio Carta, et al.
Clinical Biochemistry, 2016
Italian cystic fibrosis register report 2010
Epidemiologia E Prevenzione, 2016
The Italian National Centre for rare diseases: Where research and public health translate into action
Blood Transfusion, 2014
The Italian national external quality assessment program in molecular genetic testing: Results of the VII round (2010-2011)
F. Censi, F. Tosto, G. Floridia, M. Marra, M. Salvatore, et al.
Biomed Research International, 2013
Predictive medicine and biomarkers: The case of rare diseases
Domenica Taruscio, Marco Salvatore, Armando Magrelli, Rosella Tomanin
Personalized Medicine, 2012
Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation
Sonia Manca, Armando Magrelli, Samantha Cialfi, Karine Lefort, Roberto Ambra, et al.
Experimental Dermatology, 2011
The role of microRNAs in the biology of rare diseases
Marco Salvatore, Armando Magrelli, Domenica Taruscio
International Journal of Molecular Sciences, 2011
MicroRNA profiling of multiple osteochondromas: Identification of disease-specific and normal cartilage signatures
M Zuntini, M Salvatore, E Pedrini, A Parra, F Sgariglia, et al.
Clinical Genetics, 2010
Characterization of HUH6, HEP3B, HEPG2 and HLE liver cancer cell lines by WNT/Q- catenin pathway, microrna expression and protein expression profile
Cellular and Molecular Biology, 2010
In utero exposure to di-(2-ethylhexyl) phthalate affects liver morphology and metabolism in post-natal CD-1 mice
Francesca Maranghi, Stefano Lorenzetti, Roberta Tassinari, Gabriele Moracci, Valentina Tassinari, et al.
Reproductive Toxicology, 2010
The Italian external quality control program for familial adenomatous polyposis of the colon: Five years of experience
Federica Censi, Vincenzo Falbo, Giovanna Floridia, Marco Salvatore, Fabrizio Tosto, et al.
Genetic Testing and Molecular Biomarkers, 2010
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease
S. Cialfi, C. Oliviero, S. Ceccarelli, C. Marchese, L. Barbieri, et al.
British Journal of Dermatology, 2010
The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.
Fabrizio Tosto, Marco Salvatore, Vincenzo Falbo, Giovanna Floridia, Federica Censi, et al.
Genetic Testing and Molecular Biomarkers, 2009
Altered microRNA expression patterns in hepatoblastoma patients
Armando Magrelli, Gianluca Azzalin, Marco Salvatore, Mara Viganotti, Fabrizio Tosto, et al.
Translational Oncology, 2009
The Italian External Quality Assessment scheme for fragile X syndrome: The results of a 5-year survey
Vincenzo Falbo, Giovanna Floridia, Fabrizio Tosto, Federica Censi, Marco Salvatore, et al.
Genetic Testing, 2008
The Italian external quality assessment scheme in classical cytogenetics: Four years of activity
G. Floridia, V. Falbo, F. Censi, F. Tosto, M. Salvatore, et al.
Community Genetics, 2008
Molecular link(s) between hepatoblastoma pathogenesis and exposure to di-(2-ethylhexyl)phthalate: a hypothesis.
Folia Medica, 2008
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype
F. Berardinelli, A. di Masi, M. Salvatore, S. Banerjee, K. Myung, et al.
European Journal of Medical Genetics, 2007
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 Years of activity
Marco Salvatore, Vincenzo Falbo, Giovanna Floridia, Federica Censi, Fabrizio Tosto, et al.
Clinical Chemistry and Laboratory Medicine, 2007
Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors
Giovanna Floridia, Giulia Grilli, Marco Salvatore, Chiara Pescucci, Patrick S. Moore, et al.
Cancer Genetics and Cytogenetics, 2005
Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian Project on Standardisation and Quality Assurance
Domenica Taruscio, Vincenzo Falbo, Giovanna Floridia, Marco Salvatore, Chiara Pescucci, et al.
Clinical Chemistry and Laboratory Medicine, 2004