Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Authors: Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

Source: Molecular neurobiology. 57(9):3671-3684

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172089391.0x000001&indx=1&recIds=ETOCvdc_100172089391.0x000001

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

Authors: da Silva, Camilla Pereira, Camuzi, Diego, Reis, Adriana Helena de Oliveira, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Machado, Filipe Brum, Medina-Acosta, Enrique, Soares-Lima, Sheila Coelho, Santos-Rebouças, Cíntia Barros

Source: Expert Review of Molecular Diagnostics; Dec2023, Vol. 23 Issue 12, p1273-1281, 9p

Population genetic structure of Guiana dolphin (Sotalia guianensis) from the southwestern Atlantic coast of Brazil.

Authors: Ywasaki Lima, Juliana^1,2 ju.ywasaki@gmail.com, Machado, Filipe Brum², Farro, Ana Paula Cazerta³, Barbosa, Lupércio de Araújo⁴, da Silveira, Leonardo Serafim¹, Medina-Acosta, Enrique² quique@uenf.br

Source: PLoS ONE. 8/24/2017, Vol. 12 Issue 8, p1-16. 16p.

Subject Terms: *TUCUXI, *DOLPHINS, *MICROSATELLITE repeats, *CATTLE, *REPRODUCTION

Geographic Terms: BRAZIL

Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.

Authors: Alves da Silva, Antônio Francisco^1,2,3 anttonio.allves@gmail.com, Machado, Filipe Brum^1,2,4 filipebma@yahoo.com.br, Pavarino, Érika Cristina⁵, Biselli-Périco, Joice Matos⁵, Zampieri, Bruna Lancia⁵, da Silva Francisco Junior, Ronaldo^1,2, Mozer Rodrigues, Pedro Thyago^1,2, Terra Machado, Douglas^1,2, Santos-Rebouças, Cíntia Barros⁶, Gomes Fernandes, Maria⁷, Chuva de Sousa Lopes, Susana Marina⁷, Lopes Rios, Álvaro Fabricio¹, Medina-Acosta, Enrique^1,2,3 quique@uenf.br

Source: PLoS ONE. 4/21/2016, Vol. 11 Issue 4, p1-26. 26p.

Subject Terms: *DOWN syndrome, *DNA methylation, *CPG nucleotides, *GENETIC transcription regulation, *ANEUPLOIDY, *EPIGENETICS

5^meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation.

Authors: Machado, Filipe Brum¹, Machado, Fabricio Brum², Faria, Milena Amendro², Lovatel, Viviane Lamim², Alves da Silva, Antonio Francisco^2,3, Radic, Claudia Pamela⁴, De Brasi, Carlos Daniel⁴, Rios, Álvaro Fabricio Lopes², de Sousa Lopes, Susana Marina Chuva⁵, da Silveira, Leonardo Serafim⁶, Ruiz-Miranda, Carlos Ramon⁷, Ramos, Ester Silveira¹ esramos@fmrp.usp.br, Medina-Acosta, Enrique^2,3 quique@uenf.br

Source: PLoS ONE. Jul2014, Vol. 9 Issue 7, p1-13. 13p.

Subject Terms: *EPIGENETICS, *GENETIC markers, *PROMOTERS (Genetics), *TANDEM repeats, *X chromosome, *CYTOSINE

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Genetic map of human X-linked microsatellites used in forensic practice

Authors: Machado, Filipe Brum, Medina-Acosta, Enrique

Source: In Forensic Science International: Genetics 2009 3(3):202-204

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Genetic data on 15 STR autosomal loci for a sample population of the Northern Region of the State of Rio de Janeiro, Brazil

Authors: Rodrigues, Eduardo Leal, Machado, Filipe Brum, Arruda, Marilia Mothé, de Moura-Neto, Rodrigo Soares, Medina-Acosta, Enrique

Source: In Forensic Science International: Genetics December 2009 4(1):e25-e26