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Year Number of Results
2010 1
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2019 4
2020 3
2021 5
2023 1
2024 0

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15 results

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Page 1
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D. Di Candia F, et al. Among authors: pinna v. Orphanet J Rare Dis. 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. Orphanet J Rare Dis. 2021. PMID: 34857025 Free PMC article.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M. Brinkmann J, et al. Among authors: pinna v. Eur J Hum Genet. 2021 Mar;29(3):524-527. doi: 10.1038/s41431-020-00743-3. Epub 2020 Oct 20. Eur J Hum Genet. 2021. PMID: 33082526 Free PMC article.
Proteomic characterization of extracellular vesicles released by third stage larvae of the zoonotic parasite Anisakis pegreffii (Nematoda: Anisakidae).
Palomba M, Rughetti A, Mignogna G, Castrignanò T, Rahimi H, Masuelli L, Napoletano C, Pinna V, Giorgi A, Santoro M, Schininà ME, Maras B, Mattiucci S. Palomba M, et al. Among authors: pinna v. Front Cell Infect Microbiol. 2023 Mar 15;13:1079991. doi: 10.3389/fcimb.2023.1079991. eCollection 2023. Front Cell Infect Microbiol. 2023. PMID: 37009516 Free PMC article.
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A, Ferrara U, De Luca A, Pivonello C, Lombardo L, Piscitelli A, Tortora C, Pinna V, Daniele P, Pivonello R, Russo MG, Limongelli G, Colao A, Tartaglia M, Strisciuglio P, Melis D. Assunto A, et al. Among authors: pinna v. Orphanet J Rare Dis. 2019 Nov 15;14(1):261. doi: 10.1186/s13023-019-1223-1. Orphanet J Rare Dis. 2019. PMID: 31730495 Free PMC article.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: pinna v. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: pinna v. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Among authors: pinna v. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601
15 results