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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. Among authors: lourenco n. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann KS, de Lima MA, Nader HB, Sertié AL, Passos-Bueno MR. Moreira DP, et al. Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302. eCollection 2021. Front Cell Neurosci. 2022. PMID: 35095425 Free PMC article.
A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread.
Kobayashi GS, Brito LA, Moreira DP, Suzuki AM, Hsia GSP, Pimentel LF, de Paiva APB, Dias CR, Lourenço NCV, Oliveira BA, Manuli ER, Corral MA, Cavaçana N, Mitne-Neto M, Sales MM, Dell' Aquila LP, Filho AR, Parrillo EF, Mendes-Corrêa MC, Sabino EC, Costa SF, Leal FE, Sgro GG, Farah CS, Zatz M, Passos-Bueno MR. Kobayashi GS, et al. Among authors: lourenco ncv. Diagnostics (Basel). 2021 Aug 3;11(8):1400. doi: 10.3390/diagnostics11081400. Diagnostics (Basel). 2021. PMID: 34441334 Free PMC article.
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Bocángel MAP, et al. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407415 Free article.
Theileria parasites sequester host eIF5A to escape elimination by host-mediated autophagy.
Villares M, Lourenço N, Ktorza I, Berthelet J, Panagiotou A, Richard A, Amo A, Koziy Y, Medjkane S, Valente S, Fioravanti R, Pioche-Durieu C, Lignière L, Chevreux G, Mai A, Weitzman JB. Villares M, et al. Among authors: lourenco n. Nat Commun. 2024 Mar 12;15(1):2235. doi: 10.1038/s41467-024-45022-7. Nat Commun. 2024. PMID: 38472173 Free PMC article.
102 results