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Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Siano MA, Marchetti V, Pagano S, Di Candia F, Alessio M, De Brasi D, De Luca A, Pinna V, Sestito S, Concolino D, Tartaglia M, Strisciuglio P, D'Esposito V, Cabaro S, Perruolo G, Formisano P, Melis D. Siano MA, et al. Among authors: de brasi d, de luca a. Orphanet J Rare Dis. 2021 Oct 2;16(1):410. doi: 10.1186/s13023-021-02050-6. Orphanet J Rare Dis. 2021. PMID: 34600590 Free PMC article.
RASopathies: Clinical Diagnosis in the First Year of Life.
Digilio MC, Lepri F, Baban A, Dentici ML, Versacci P, Capolino R, Ferese R, De Luca A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: de luca a. Mol Syndromol. 2011 Sep;1(6):282-289. doi: 10.1159/000331266. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190897 Free PMC article.
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. Among authors: de luca a. 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.
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: de luca a. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601
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. Among authors: de luca a. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 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: de luca a. 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.
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: de luca a. 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.
2,252 results