Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities

…, C Gissi, C Manzari, A Parisi, N Resta… - Briefings in …, 2021 - academic.oup.com
Various next generation sequencing (NGS) based strategies have been successfully used in
the recent past for tracing origins and understanding the evolution of infectious agents …

[HTML][HTML] The role of oxidative stress in the pathomechanism of congenital malformations

…, M Capozza, ME Baldassarre, N Resta - … medicine and cellular …, 2018 - hindawi.com
Congenital anomalies are significant causes of mortality and morbidity in infancy and
childhood. Embryogenesis requires specific signaling pathways to regulate cell proliferation …

[HTML][HTML] Effect of standardized training on the reliability of the Cochrane risk of bias assessment tool: a prospective study

BR da Costa, B Beckett, A Diaz, NM Resta… - Systematic reviews, 2017 - Springer
Abstract Background The Cochrane risk of bias tool is commonly criticized for having a low
reliability. We aimed to investigate whether training of raters, with objective and …

Analysis of the LKB1-STRAD-MO25 complex

J Boudeau, JW Scott, N Resta, M Deak… - Journal of cell …, 2004 - journals.biologists.com
Mutations in the LKB1 tumour suppressor threonine kinase cause the inherited Peutz-
Jeghers cancer syndrome and are also observed in some sporadic cancers. Recent work …

Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study

N Resta, D Pierannunzio, GM Lenato, A Stella… - Digestive and Liver …, 2013 - Elsevier
BACKGROUND: Germline mutations in the STK11/LKB1 gene cause Peutz–Jeghers
syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous …

[HTML][HTML] A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

…, M Comelli, D Salvante, A Stella, N Resta… - Orphanet Journal of …, 2012 - Springer
Background The difficulty in establishing a timely correct diagnosis is a relevant matter of
concern for several rare diseases. Many rare-disease-affected patients suffer from …

Cancer risks in LKB1 germline mutation carriers

H Mehenni, N Resta, JG Park, M Miyaki, G Guanti… - Gut, 2006 - gut.bmj.com
Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-
Jeghers syndrome, which is an autosomal dominant disorder characterised by …

[PDF][PDF] COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

…, S Scholl-Bürgi, E Graf, U Ahting, N Resta… - The American Journal of …, 2015 - cell.com
Primary coenzyme Q10 (CoQ 10) deficiencies are rare, clinically heterogeneous disorders
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis …

[HTML][HTML] Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on …

…, L Chessa, N Laforgia, R Tenconi, C Simone, N Resta - PloS one, 2015 - journals.plos.org
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …

[HTML][HTML] Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived …

…, G Moeslein, L Renkonen-Sinisalo, N Resta… - Genetics in …, 2020 - Elsevier
Purpose Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited
cancer predisposition caused in approximately 50% of cases by pathogenic germline …