Detalles de la búsqueda
1.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36349505
2.
Umbilical Cord Blood Cell Clearance Post-Infusion in Immune-Competent Children with Cerebral Palsy.
Cells Tissues Organs
; 212(6): 546-553, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36261026
3.
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).
J Med Genet
; 59(7): 706-709, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34321326
4.
Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.
Int J Mol Sci
; 24(13)2023 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-37445892
5.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Am J Med Genet A
; 188(1): 304-309, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34545686
6.
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Am J Med Genet A
; 185(5): 1498-1503, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33544979
7.
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
Int J Mol Sci
; 21(20)2020 Oct 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33086711
8.
Epigenetics of fragile X syndrome and fragile X-related disorders.
Dev Med Child Neurol
; 61(2): 121-127, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30084485
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31405222
10.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Genet Med
; 20(12): 1627-1634, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29595813
11.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26715660
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23307923
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26132880
14.
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Clin Chem
; 60(7): 963-73, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24778142
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23060046
16.
Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023.
Genes (Basel)
; 14(6)2023 05 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37372328
17.
Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years.
Disabil Health J
; 16(2): 101423, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36639256
18.
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
J Autism Dev Disord
; 53(4): 1682-1692, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34292487
19.
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.
Clin Chem
; 58(3): 590-8, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22235103
20.
Selective subcortical contributions to gait impairments in males with the FMR1 premutation.
J Neurol Neurosurg Psychiatry
; 88(2): 188-190, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27683920