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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2005 1
2007 1
2008 1
2010 3
2013 2
2014 3
2015 1
2016 4
2017 1
2018 2
2020 2
2021 3
2023 1
2024 1

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24 results

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Page 1
Von Hippel-Lindau disease and multispecialist team.
Pavesi G, Feletti A, Ferrara AM, Anglani M, Scarpa B, Schiavi F, Boaretto F, Zovato S, Taschin E, Gardi M, Zanoletti E, Piermarocchi S, Murgia A, Opocher G; VHL-Padova Network. Pavesi G, et al. Among authors: boaretto f. J Neurosurg Sci. 2021 Apr;65(2):213-215. doi: 10.23736/S0390-5616.20.04950-4. Epub 2020 Apr 29. J Neurosurg Sci. 2021. PMID: 32347679 No abstract available.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Among authors: boaretto f. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. Qin Y, et al. Among authors: boaretto f. Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154675 Free PMC article.
TP53 DNA binding domain mutational status and rituximab-based treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.
Martire G, Lovisa F, Carraro E, Rizzato D, Cesaro S, Mura RM, Tondo A, Bertolin C, Boaretto F, Salviati L, Biffi A, Pillon M, Mussolin L. Martire G, et al. Among authors: boaretto f. Haematologica. 2024 Feb 22. doi: 10.3324/haematol.2023.284868. Online ahead of print. Haematologica. 2024. PMID: 38385281 Free article.
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
Feletti A, Anglani M, Scarpa B, Schiavi F, Boaretto F, Zovato S, Taschin E, Gardi M, Zanoletti E, Piermarocchi S, Murgia A, Pavesi G, Opocher G. Feletti A, et al. Among authors: boaretto f. Neuro Oncol. 2016 Jul;18(7):1011-20. doi: 10.1093/neuonc/nov313. Epub 2016 Jan 12. Neuro Oncol. 2016. PMID: 26763786 Free PMC article.
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
Ferrara AM, Sciacco M, Zovato S, Rizzati S, Colombo I, Boaretto F, Moggio M, Opocher G. Ferrara AM, et al. Among authors: boaretto f. Cancer Res Treat. 2016 Oct;48(4):1438-1442. doi: 10.4143/crt.2015.450. Epub 2016 Mar 25. Cancer Res Treat. 2016. PMID: 27034144 Free PMC article.
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Gregianin E, Pallafacchina G, Zanin S, Crippa V, Rusmini P, Poletti A, Fang M, Li Z, Diano L, Petrucci A, Lispi L, Cavallaro T, Fabrizi GM, Muglia M, Boaretto F, Vettori A, Rizzuto R, Mostacciuolo ML, Vazza G. Gregianin E, et al. Among authors: boaretto f. Hum Mol Genet. 2016 Sep 1;25(17):3741-3753. doi: 10.1093/hmg/ddw220. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402882 Free article.
24 results