Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

60 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Santos-Rebouças CB, Piergiorge RM, Dos Santos Ferreira C, Seixas Zeitel R, Gerber AL, Rodrigues MCF, Guimarães APC, Silva RM, Fonseca AR, Souza RC, de Souza ATAM, Rossi ÁD, Porto LCMS, Cardoso CC, de Vasconcelos ATR. Santos-Rebouças CB, et al. Mol Med. 2022 Dec 12;28(1):153. doi: 10.1186/s10020-022-00583-5. Mol Med. 2022. PMID: 36510129 Free PMC article.
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
Santos-Rebouças CB, de Almeida LG, Belet S, Dos Santos SR, Ribeiro MG, da Silva AF, Medina-Acosta E, Dos Santos JM, Gonçalves AP, Bahia PR, Pimentel MM, Froyen G. Santos-Rebouças CB, et al. J Hum Genet. 2015 Apr;60(4):207-11. doi: 10.1038/jhg.2015.1. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652354
Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.
Guimarães Bde C, Pereira AC, Rodrigues Fda C, dos Santos AV, Campos M Jr, dos Santos JM, dos Santos FL, de Rosso AL, Nicaretta DH, Pereira JS, da Silva DJ, Della Coletta MV, Santos-Rebouças CB, Pimentel MM. Guimarães Bde C, et al. Parkinsonism Relat Disord. 2012 Jun;18(5):688-9. doi: 10.1016/j.parkreldis.2011.11.028. Epub 2011 Dec 21. Parkinsonism Relat Disord. 2012. PMID: 22192918 No abstract available.
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.
Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P. Froyen G, et al. Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840365 Free PMC article.
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
Alves da Silva AF, Machado FB, Pavarino ÉC, Biselli-Périco JM, Zampieri BL, da Silva Francisco Junior R, Mozer Rodrigues PT, Terra Machado D, Santos-Rebouças CB, Gomes Fernandes M, Chuva de Sousa Lopes SM, Lopes Rios ÁF, Medina-Acosta E. Alves da Silva AF, et al. PLoS One. 2016 Apr 21;11(4):e0154108. doi: 10.1371/journal.pone.0154108. eCollection 2016. PLoS One. 2016. PMID: 27100087 Free PMC article.
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Santos-Rebouças CB, Boy R, Vianna EQ, Gonçalves AP, Piergiorge RM, Abdala BB, Dos Santos JM, Calassara V, Machado FB, Medina-Acosta E, Pimentel MMG. Santos-Rebouças CB, et al. Front Genet. 2020 Mar 4;11:101. doi: 10.3389/fgene.2020.00101. eCollection 2020. Front Genet. 2020. PMID: 32194616 Free PMC article.
60 results