Santos-Rebouças CB - Search Results

1

Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.

Cotrin JC, Piergiorge RM, Gonçalves AP, Pereira JS, Gerber AL, de Campos Guimarães AP, de Vasconcelos ATR, Santos-Rebouças CB. Cotrin JC, et al. Among authors: santos reboucas cb. Metab Brain Dis. 2024 Jun;39(5):915-928. doi: 10.1007/s11011-024-01362-3. Epub 2024 Jun 5. Metab Brain Dis. 2024. PMID: 38836947

2

Understanding the (epi)genetic dysregulation in Parkinson's disease through an integrative brain competitive endogenous RNA network.

Piergiorge RM, Vasconcelos ATR, Santos-Rebouças CB. Piergiorge RM, et al. Among authors: santos reboucas cb. Mech Ageing Dev. 2024 Jun;219:111942. doi: 10.1016/j.mad.2024.111942. Epub 2024 May 16. Mech Ageing Dev. 2024. PMID: 38762037

3

Immune response stability to the SARS-CoV-2 mRNA vaccine booster is influenced by differential splicing of HLA genes.

Santos-Rebouças CB, Ferreira CDS, Nogueira JS, Brustolini OJ, de Almeida LGP, Gerber AL, Guimarães APC, Piergiorge RM, Struchiner CJ, Porto LC, de Vasconcelos ATR. Santos-Rebouças CB, et al. Sci Rep. 2024 Apr 18;14(1):8982. doi: 10.1038/s41598-024-59259-1. Sci Rep. 2024. PMID: 38637586 Free PMC article.

4

Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.

da Silva CP, Camuzi D, Reis AHO, Gonçalves AP, Dos Santos JM, Machado FB, Medina-Acosta E, Soares-Lima SC, Santos-Rebouças CB. da Silva CP, et al. Among authors: santos reboucas cb. Expert Rev Mol Diagn. 2023 Jul-Dec;23(12):1273-1281. doi: 10.1080/14737159.2023.2284782. Epub 2023 Dec 15. Expert Rev Mol Diagn. 2023. PMID: 37970883

5

Multi-layered transcriptomic analysis reveals a pivotal role of FMR1 and other developmental genes in Alzheimer's disease-associated brain ceRNA network.

Piergiorge RM, da Silva Francisco Junior R, de Vasconcelos ATR, Santos-Rebouças CB. Piergiorge RM, et al. Among authors: santos reboucas cb. Comput Biol Med. 2023 Nov;166:107494. doi: 10.1016/j.compbiomed.2023.107494. Epub 2023 Sep 20. Comput Biol Med. 2023. PMID: 37769462

6

Exploring the interplay between metabolomics and genetics in Parkinson's disease: Insights from ongoing research and future avenues.

Santos-Rebouças CB, Cordovil Cotrin J, Dos Santos Junior GC. Santos-Rebouças CB, et al. Mech Ageing Dev. 2023 Dec;216:111875. doi: 10.1016/j.mad.2023.111875. Epub 2023 Sep 23. Mech Ageing Dev. 2023. PMID: 37748695 Review.

7

TP53 and p21 (CDKN1A) polymorphisms and the risk of systemic lupus erythematosus.

Macedo JMB, Silva AL, Pinto AC, Landeira LFL, Portari EA, Santos-Rebouças CB, Klumb EM. Macedo JMB, et al. Among authors: santos reboucas cb. Adv Rheumatol. 2023 Aug 21;63(1):43. doi: 10.1186/s42358-023-00320-4. Adv Rheumatol. 2023. PMID: 37605254

8

Metabolic Adaptations Correlated with Antibody Response after Immunization with Inactivated SARS-CoV-2 in Brazilian Subjects.

de Souza Nogueira J, Santos-Rebouças CB, Piergiorge RM, Valente AP, Gama-Almeida MC, El-Bacha T, Lopes Moreira ML, Baptista Marques BS, de Siqueira JR, de Carvalho EM, da Costa Ferreira O Jr, Porto LC, Kelly da Silva Fidalgo T, Costa Dos Santos G Jr. de Souza Nogueira J, et al. Among authors: santos reboucas cb. J Proteome Res. 2023 Jun 2;22(6):1908-1922. doi: 10.1021/acs.jproteome.3c00014. Epub 2023 May 11. J Proteome Res. 2023. PMID: 37167433

9

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.

Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Chaves LD, et al. Among authors: santos reboucas cb. Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943625

10

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG. Santos-Rebouças CB, et al. Eur J Med Genet. 2023 Apr;66(4):104716. doi: 10.1016/j.ejmg.2023.104716. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731745

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