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Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.
Salgado CM, Alaggio R, Ciolfi A, Zin A, Diomedi Camassei F, Pedace L, Milano GM, Serra A, Di Giannatale A, Mastronuzzi A, Gianatti A, Bisogno G, Ferrari A, Tartaglia M, Reyes-Múgica M, Locatelli F, Miele E. Salgado CM, et al. Among authors: pedace l. Mod Pathol. 2023 Feb;36(2):100039. doi: 10.1016/j.modpat.2022.100039. Epub 2023 Jan 10. Mod Pathol. 2023. PMID: 36853789 Free article.
AXIN2 germline mutations are rare in familial melanoma.
Pedace L, Castiglia D, De Simone P, Castori M, De Luca N, Amantea A, Binni F, Majore S, Cozzolino AM, De Bernardo C, Zambruno G, Catricalà C, Grammatico P. Pedace L, et al. Genes Chromosomes Cancer. 2011 May;50(5):370-3. doi: 10.1002/gcc.20855. Epub 2011 Feb 3. Genes Chromosomes Cancer. 2011. PMID: 21294210 No abstract available.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Among authors: pedace l. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: pedace l. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. Ciolfi A, et al. Among authors: pedace l. Clin Epigenetics. 2020 Jan 7;12(1):7. doi: 10.1186/s13148-019-0804-0. Clin Epigenetics. 2020. PMID: 31910894 Free PMC article.
Modeling medulloblastoma in vivo and with human cerebellar organoids.
Ballabio C, Anderle M, Gianesello M, Lago C, Miele E, Cardano M, Aiello G, Piazza S, Caron D, Gianno F, Ciolfi A, Pedace L, Mastronuzzi A, Tartaglia M, Locatelli F, Ferretti E, Giangaspero F, Tiberi L. Ballabio C, et al. Among authors: pedace l. Nat Commun. 2020 Jan 29;11(1):583. doi: 10.1038/s41467-019-13989-3. Nat Commun. 2020. PMID: 31996670 Free PMC article.
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: pedace l. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.
Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experience.
Cacchione A, Lodi M, Carai A, Miele E, Tartaglia M, Megaro G, Del Baldo G, Alessi I, Colafati GS, Carboni A, Boccuto L, Diomedi Camassei F, Catanzaro G, Po A, Ferretti E, Pedace L, Pizzi S, Folgiero V, Pezzullo M, Corsetti T, Secco DE, Cefalo MG, Locatelli F, Mastronuzzi A. Cacchione A, et al. Among authors: pedace l. Int J Cancer. 2021 May 15;148(10):2522-2534. doi: 10.1002/ijc.33438. Epub 2020 Dec 27. Int J Cancer. 2021. PMID: 33320972 Free article.
46 results