Davide Martorana
Overview
Explore the profile of Davide Martorana including associated specialties, affiliations and a list of published articles.
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Articles
52
Citations
1043
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Recent Articles
1.
Cannizzaro I, Treccani M, Taiani A, Ambrosini E, Busciglio S, Cesarini S, et al.
Int J Mol Sci
. 2024 Oct;
25(19).
PMID: 39409151
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral nerve sheath tumors (MPNSTs) which represents the primary cause...
2.
Uliana V, Ambrosini E, Taiani A, Cesarini S, Cannizzaro I, Negrotti A, et al.
Genes (Basel)
. 2024 Jul;
15(7.
PMID: 39062695
Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired...
3.
Treccani M, Veschetti L, Patuzzo C, Malerba G, Vaglio A, Martorana D
Curr Issues Mol Biol
. 2024 Jul;
46(7):7516-7529.
PMID: 39057087
In this work, we present a comprehensive overview of the genetic and non-genetic complexity of eosinophilic granulomatosis with polyangiitis (EGPA). EGPA is a rare complex systemic disease that occurs in...
4.
Martorana D, Bajema I
Lancet Rheumatol
. 2024 May;
6(6):e333-e335.
PMID: 38734018
No abstract available.
5.
Barili V, Ambrosini E, Bortesi B, Minari R, De Sensi E, Cannizzaro I, et al.
Genes (Basel)
. 2024 Feb;
15(2).
PMID: 38397209
Germline variants occurring in and give rise to hereditary breast and ovarian cancer (HBOC) syndrome, predisposing to breast, ovarian, fallopian tube, and peritoneal cancers marked by elevated incidences of genomic...
6.
Martorana D, Barili V, Uliana V, Ambrosini E, Riva M, De Sensi E, et al.
Eur J Med Genet
. 2023 Sep;
66(11):104847.
PMID: 37751797
The finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and needs to be periodically re-evaluated,...
7.
Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, et al.
Genes (Basel)
. 2023 Jun;
14(6).
PMID: 37372421
Novel approaches to uncover the molecular etiology of neurodevelopmental disorders (NDD) are highly needed. Even using a powerful tool such as whole exome sequencing (WES), the diagnostic process may still...
8.
Trivioli G, Marquez A, Martorana D, Tesi M, Kronbichler A, Lyons P, et al.
Nat Rev Rheumatol
. 2022 Sep;
18(10):559-574.
PMID: 36109667
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA), that share features of pauci-immune small-vessel vasculitis and the positivity...
9.
Pollazzon M, Caraffi S, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, et al.
Genes (Basel)
. 2022 Jan;
13(1).
PMID: 35052370
The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and...
10.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, et al.
Genes Chromosomes Cancer
. 2021 Aug;
61(1):10-21.
PMID: 34427956
Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for...