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

Year Number of Results
1994 1
1995 2
1997 1
1999 2
2000 1
2001 1
2002 2
2003 1
2004 3
2005 1
2006 2
2007 1
2008 2
2009 1
2010 1
2011 3
2012 1
2014 5
2015 2
2016 1
2017 1
2018 1
2019 3
2020 2
2021 4
2022 2
2023 1
2024 1

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47 results

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Page 1
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: stellacci e. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Among authors: stellacci e. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Myelin like electrogenic filamentation and Liquid Microbial Fuel Cells Dataset.
D'Ugo E, Bertuccini L, Spadaro F, Giuseppetti R, Iosi F, Santavenere F, Giuliani F, Bruno M, Lovecchio N, Gioacchini S, Bucci P, Stellacci E, Bernardo A, Mukherjee A, Magurano F. D'Ugo E, et al. Among authors: stellacci e. Data Brief. 2022 Jul 11;43:108447. doi: 10.1016/j.dib.2022.108447. eCollection 2022 Aug. Data Brief. 2022. PMID: 35864873 Free PMC article.
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: stellacci e. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M. Niceta M, et al. Among authors: stellacci e. Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3. Clin Genet. 2020. PMID: 31600839
On the role of interferon regulatory factors in HIV-1 replication.
Marsili G, Borsetti A, Sgarbanti M, Remoli AL, Ridolfi B, Stellacci E, Ensoli B, Battistini A. Marsili G, et al. Among authors: stellacci e. Ann N Y Acad Sci. 2003 Dec;1010:29-42. doi: 10.1196/annals.1299.005. Ann N Y Acad Sci. 2003. PMID: 15033691 Review.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Fragale A, Stellacci E, Romagnoli G, Licursi V, Parlato S, Canini I, Remedi G, Buoncervello M, Matarrese P, Pedace L, Ascione B, Pizzi S, Tartaglia M, D'Atri S, Presutti C, Capone I, Gabriele L. Fragale A, et al. Among authors: stellacci e. Int J Cancer. 2023 Sep 1;153(5):1080-1095. doi: 10.1002/ijc.34602. Epub 2023 Jun 9. Int J Cancer. 2023. PMID: 37293858
Mutations in PAX2 associate with adult-onset FSGS.
Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR. Barua M, et al. Among authors: stellacci e. J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27. J Am Soc Nephrol. 2014. PMID: 24676634 Free PMC article.
47 results