Filipe B. Machado
MG, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.
Journal: Expert review of molecular diagnostics
Published: November 16, 2023
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Journal: Molecular neurobiology
Published: March 20, 2020
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Journal: Frontiers in genetics
Published: July 31, 2019
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.
Journal: Frontiers in genetics
Published: September 28, 2017
Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.
Journal: Molecular cytogenetics
Published: July 07, 2016
Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.
Journal: Molecular cytogenetics
Published: February 19, 2016
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
Journal: PloS one
Published: December 13, 2015
Accurate tracking genetic markers in haemophilia linkage analysis: a matter beyond scientific priority.
Journal: Haemophilia : the official journal of the World Federation of Hemophilia
Published: April 25, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026