Filipe Machado

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

Authors:

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

Mol Neurobiol 2020 Sep 20;57(9):3671-3684. Epub 2020 Jun 20.

Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, RJ, 20550-013, Brazil.

View Article and Find Full Text PDF

September 2020

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.

Authors:

Cíntia B Santos-Rebouças Raquel Boy Evelyn Q Vianna Andressa P Gonçalves Rafael M Piergiorge Bianca B Abdala Jussara M Dos Santos Veluma Calassara Filipe B Machado Enrique Medina-Acosta Márcia M G Pimentel

Front Genet 2020 4;11:101. Epub 2020 Mar 4.

Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.

View Article and Find Full Text PDF

March 2020

A case report of severe bleeding due to lupus anticoagulant hypoprothrombinemia syndrome.

Authors:

Elsa Meireles Filipe Machado Luís Teles Anna Chumakova Joana Sequeira Ana Spínola

J Thromb Thrombolysis 2020 Feb;49(2):334-336

Department of Imunohemotherapy, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal.

View Article and Find Full Text PDF

February 2020

Maternal 5CpG Imprints at the and Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.

Authors:

Graziela de Sá Machado Araújo Ronaldo da Silva Francisco Junior Cristina Dos Santos Ferreira Pedro Thyago Mozer Rodrigues Douglas Terra Machado Thais Louvain de Souza Jozimara Teixeira de Souza Cleiton Figueiredo Osorio da Silva Antônio Francisco Alves da Silva Claudia Caixeta Franco Andrade Alan Tardin da Silva Victor Ramos Ana Beatriz Garcia Filipe Brum Machado Enrique Medina-Acosta

Front Genet 2018 1;9:36. Epub 2018 Mar 1.

Núcleo de Diagnóstico e Investigação Molecular, Laboratório de Biotecnologia, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Campos dos Goytacazes, Brazil.

View Article and Find Full Text PDF

March 2018

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

Authors:

Juliana Ywasaki Lima Filipe Brum Machado Ana Paula Cazerta Farro Lupércio de Araújo Barbosa Leonardo Serafim da Silveira Enrique Medina-Acosta

PLoS One 2017 24;12(8):e0183645. Epub 2017 Aug 24.

Laboratory of Biotechnology, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Campos dos Goytacazes, Rio de Janeiro, Brazil.

View Article and Find Full Text PDF

October 2017

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Authors:

Juliana Dourado Grzesiuk Ciro Silveira Pereira Carlos Henrique Paiva Grangeiro Clarissa Gondim Picanço-Albuquerque Flávia Gaona Oliveira-Gennaro Filipe Brum Machado Enrique Medina-Acosta Ester Silveira Ramos Maisa Yoshimoto Lucia Martelli

Mol Cytogenet 2016 5;9:53. Epub 2016 Jul 5.

Genetics Department, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14049-900 Brazil.

View Article and Find Full Text PDF

July 2016

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Authors:

Juliana Dourado Grzesiuk Ciro Silveira Pereira Carlos Henrique Paiva Grangeiro Clarissa Gondim Picanço-Albuquerque Flávia Gaona Oliveira-Gennaro Filipe Brum Machado Enrique Medina-Acosta Ester Silveira Ramos Maisa Yoshimoto Lucia Martelli

Mol Cytogenet 2016 15;9:45. Epub 2016 Jun 15.

Genetics Department, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto, 14049-900 Brazil.

View Article and Find Full Text PDF

June 2016

A FT-NIR spectroscopy methodology to estimate firing distance based on the direct analysis of the bullet impact surface.

Authors:

Jorge M G Sarraguça Catarina Lima Filipe Machado João A Lopes Agostinho Almeida Luís Fernandes Teresa Magalhães Agostinho Santos

Analyst 2016 Jul;141(14):4410-6

Departamento de Medicina Legal e Ciências Forenses, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal and Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Norte, 4050-167 Porto, Portugal and Escola de Ciências da Saúde, Universidade do Minho, 4710-057, Braga, Portugal.

View Article and Find Full Text PDF

July 2016

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

Authors:

Antônio Francisco Alves da Silva Filipe Brum Machado Érika Cristina Pavarino Joice Matos Biselli-Périco Bruna Lancia Zampieri Ronaldo da Silva Francisco Junior Pedro Thyago Mozer Rodrigues Douglas Terra Machado Cíntia Barros Santos-Rebouças Maria Gomes Fernandes Susana Marina Chuva de Sousa Lopes Álvaro Fabricio Lopes Rios Enrique Medina-Acosta

PLoS One 2016 21;11(4):e0154108. Epub 2016 Apr 21.

Laboratory of Biotechnology, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Campos do Goytacazes, Rio de Janeiro, Brazil.

View Article and Find Full Text PDF

April 2017

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.

Authors:

Filipe Brum Machado Fabricio Brum Machado Milena Amendro Faria Viviane Lamim Lovatel Antonio Francisco Alves da Silva Claudia Pamela Radic Carlos Daniel De Brasi Álvaro Fabricio Lopes Rios Susana Marina Chuva de Sousa Lopes Leonardo Serafim da Silveira Carlos Ramon Ruiz-Miranda Ester Silveira Ramos Enrique Medina-Acosta

PLoS One 2014 31;9(7):e103714. Epub 2014 Jul 31.

Laboratory of Biotechnology, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Campos do Goytacazes, Rio de Janeiro, Brazil; Molecular Identification and Diagnostics Unit, Hospital Escola Álvaro Alvim, Campos dos Goytacazes, Rio de Janeiro, Brazil.

View Article and Find Full Text PDF

November 2015

Gametic phase disequilibrium between the syntenic multiallelic HTG4 and HMS3 markers widely used for parentage testing in Thoroughbred horses.

Authors:

Filipe Brum Machado Luana de Vasconcellos Machado Cynthia Rachid Bydlowski Sergio Paulo Bydlowski Enrique Medina-Acosta

Mol Biol Rep 2012 Feb 24;39(2):1447-52. Epub 2011 May 24.

Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Avenida Bandeirantes, 3900, Monte Alegre, Ribeirão Preto, SP, CEP 14049-900, Brazil.

View Article and Find Full Text PDF

February 2012

Eyes wide open: the (mis)use of combined power of discrimination for X-linked short tandem repeats.

Authors:

Enrique Medina-Acosta Filipe Brum Machado

Mol Biol Rep 2011 Aug 26;38(6):4003-6. Epub 2010 Nov 26.

Núcleo de Diagnóstico e Investigação Molecular, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Avenida Alberto Lamego 2000, Parque Califórnia, Campos dos Goytacazes, RJ, CEP 28013-602, Brazil.

View Article and Find Full Text PDF

August 2011

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

Authors:

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

Forensic Sci Int Genet 2009 Dec 20;4(1):e25-6. Epub 2009 Feb 20.

Núcleo de Diagnóstico e Investigação Molecular (NUDIM), Laboratório de Biotecnologia, Centro de Biociências e Biotecnologia, Universidade Estadual do Norte Fluminense Darcy Ribeiro, Avenida Alberto Lamego 2000, Parque Califórnia, Campos dos Goytacazes CEP 29013-602, RJ, Brazil.

View Article and Find Full Text PDF

December 2009