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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study; Fisher SE, Logan DW. Dias C, et al. Among authors: santos rf. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453576 Free PMC article.
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF. Dias C, et al. Among authors: santos rf. Eur J Hum Genet. 2013 Nov;21(11):1232-9. doi: 10.1038/ejhg.2013.20. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443029 Free PMC article.
Spatiotemporal dynamics of fetal liver hematopoietic niches.
Mesquita Peixoto M, Soares-da-Silva F, Bonnet V, Zhou Y, Ronteix G, Santos RF, Mailhe MP, Nogueira G, Feng X, Pereira JP, Azzoni E, Anselmi G, de Bruijn MFTR, Perkins A, Baroud CN, Pinto-do-Ó P, Cumano A. Mesquita Peixoto M, et al. Among authors: santos rf. J Exp Med. 2025 Feb 3;222(2):e20240592. doi: 10.1084/jem.20240592. Epub 2025 Jan 7. J Exp Med. 2025. PMID: 39775824 Free PMC article.
Minimal Change Disease and Focal Segmental Glomerulosclerosis are associated with good kidney prognosis and Thrombotic Microangiopathy with poor kidney survival in patients with COVID-19-associated nephropathies.
Neves PDMM, Araujo SA, Wanderley DC, Sodré AM, Campos MAG, Watanabe EH, Malheiros DMAC, Cavalcante LB, Ledesma FL, Israel KCP, Barcelos FLB, Pinho LLF, Barbosa FAM, Miranda SMC, Dantas M, Britto WLM, Paixão JO, Madeira RL, Guedes FL, Luchi WM, Cuvello-Neto AL, Marques IDB, Almeida JB, Vasco RFV, Monteiro A, Ladchumananandasivam FR, Júnior AALT, Gomes OV, Hagemann R, Ferra-Neto OA, Santos RF, Costa DMDN, Luz-Neto ER, Soares LCBA, Mubarac RS, Costa KMAH, Weissheimer R, Almeida CM, Silva BABD, Miranda LS, Iannuzzi LR, Murata GM, Noronha IL, Salgado Filho N, Onuchic L, Silva GEB. Neves PDMM, et al. Among authors: santos rf. Am J Nephrol. 2024 Dec 11:1-29. doi: 10.1159/000542836. Online ahead of print. Am J Nephrol. 2024. PMID: 39662073 Free article.
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