Detalhe da pesquisa
1.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Int J Mol Sci
; 20(16)2019 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31405222
2.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715660
3.
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Genes (Basel)
; 10(4)2019 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30959842
4.
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
Sci Rep
; 9(1): 15315, 2019 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31653898
5.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Mol Autism
; 10: 21, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073396
6.
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Sci Rep
; 8(1): 3644, 2018 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483611