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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Júnior JC, Arberas C, Guillén-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Cardoso LCA, et al. Among authors: llerena junior jc. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. Cancers (Basel). 2022. PMID: 35954470 Free PMC article.
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Ferreira IR, Costa RA, Gomes LHF, Dos Santos Cunha WD, Tyszler LS, Freitas S, Llerena Junior JC, de Vasconcelos ZFM, Nicholls RD, Guida LDC. Ferreira IR, et al. Among authors: llerena junior jc. Sci Rep. 2020 Aug 3;10(1):13026. doi: 10.1038/s41598-020-69750-0. Sci Rep. 2020. PMID: 32747801 Free PMC article.
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.
Lovatel VL, de Souza DC, Alvarenga TF, Capela de Matos RR, Diniz C, Schramm MT, Llerena Júnior JC, Silva MLM, Abdelhay E, de Souza Fernandez T. Lovatel VL, et al. Among authors: llerena junior jc. Mol Cytogenet. 2018 Jul 11;11:40. doi: 10.1186/s13039-018-0389-x. eCollection 2018. Mol Cytogenet. 2018. PMID: 30008805 Free PMC article.