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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
Del Baldo G, Mastronuzzi A, Cipri S, Agolini E, Matraxia M, Novelli A, Cacchione A, Serra A, Carai A, Boccuto L, Colafati GS, Di Paolo PL, Miele E, Barresi S, Alaggio R, Rossi S, Giovannoni I. Del Baldo G, et al. Among authors: agolini e. Sci Rep. 2024 Sep 13;14(1):21435. doi: 10.1038/s41598-024-71667-x. Sci Rep. 2024. PMID: 39271738 Free PMC article.
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Pušenjak MŠ, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: agolini e. HGG Adv. 2022 Jul 12;3(4):100122. doi: 10.1016/j.xhgg.2022.100122. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 35860725 Free PMC article.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. Al-Jawahiri R, et al. Among authors: agolini e. Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. Genet Med. 2022. PMID: 35341651 Free PMC article.
BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas.
Del Bufalo F, Ceglie G, Cacchione A, Alessi I, Colafati GS, Carai A, Diomedi-Camassei F, De Billy E, Agolini E, Mastronuzzi A, Locatelli F. Del Bufalo F, et al. Among authors: agolini e. Front Oncol. 2018 Nov 14;8:526. doi: 10.3389/fonc.2018.00526. eCollection 2018. Front Oncol. 2018. PMID: 30488019 Free PMC article.
132 results