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Page 1
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F. Roncareggi S, et al. Among authors: pedace l. J Clin Immunol. 2023 Nov;43(8):2192-2207. doi: 10.1007/s10875-023-01583-8. Epub 2023 Oct 14. J Clin Immunol. 2023. PMID: 37837580
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.
Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants.
Fazio G, Bardini M, De Lorenzo P, Grioni A, Quadri M, Pedace L, Corral Abascal L, Palamini S, Palmi C, Buldini B, Vinti L, Parasole R, Barisone E, Zecca M, Favre C, Locatelli F, Conter V, Rizzari C, Valsecchi MG, Biondi A, Cazzaniga G. Fazio G, et al. Among authors: pedace l. Blood. 2021 Apr 8;137(14):1980-1984. doi: 10.1182/blood.2020009032. Blood. 2021. PMID: 33512459 Free article. No abstract available.
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Baccelli F, Leardini D, Muratore E, Messelodi D, Bertuccio SN, Chiriaco M, Cancrini C, Conti F, Castagnetti F, Pedace L, Pession A, Yoshimi A, Niemeyer C, Tartaglia M, Locatelli F, Masetti R. Baccelli F, et al. Among authors: pedace l. Hum Genomics. 2022 Sep 19;16(1):40. doi: 10.1186/s40246-022-00414-y. Hum Genomics. 2022. PMID: 36123612 Free PMC article.
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling.
Lopez-Nunez O, Alaggio R, John I, Ciolfi A, Pedace L, Mastronuzzi A, Gianno F, Giangaspero F, Rossi S, Donofrio V, Cinalli G, Surrey LF, Tartaglia M, Locatelli F, Miele E. Lopez-Nunez O, et al. Among authors: pedace l. Cancers (Basel). 2021 Feb 9;13(4):706. doi: 10.3390/cancers13040706. Cancers (Basel). 2021. PMID: 33572349 Free PMC article.
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.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cavé H. Arfeuille C, et al. Among authors: pedace l. Haematologica. 2023 Nov 16. doi: 10.3324/haematol.2023.283917. Online ahead of print. Haematologica. 2023. PMID: 37981895 Free article.
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
Patrizi S, Miele E, Falcone L, Vallese S, Rossi S, Barresi S, Giovannoni I, Pedace L, Nardini C, Masier I, Abballe L, Cacchione A, Russo I, Di Giannatale A, Di Ruscio V, Salgado CM, Mastronuzzi A, Ciolfi A, Tartaglia M, Milano GM, Locatelli F, Alaggio R. Patrizi S, et al. Among authors: pedace l. Clin Epigenetics. 2024 Jan 4;16(1):9. doi: 10.1186/s13148-023-01621-7. Clin Epigenetics. 2024. PMID: 38178234 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.
46 results