Detalhe da pesquisa
1.
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
Hum Mol Genet
; 22(8): 1516-24, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307923
2.
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
Expert Rev Mol Med
; 17: e13, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132880
3.
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Genet Med
; 15(4): 290-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23060046