Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349505
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321326
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33086711
4.
Epigenetics of fragile X syndrome and fragile X-related disorders.
Dev Med Child Neurol
; 61(2): 121-127, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084485
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595813
6.
Executive Dysfunction in Female FMR1 Premutation Carriers.
Cerebellum
; 15(5): 565-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126308
7.
Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.
Am J Med Genet B Neuropsychiatr Genet
; 165B(1): 41-51, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166828
8.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Cells
; 12(18)2023 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37759552
9.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
J Neurodev Disord
; 11(1): 41, 2019 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31878865
10.
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
11.
ß-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.
PLoS One
; 13(2): e0192151, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474364
12.
Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.
Neurobiol Aging
; 36(3): 1400-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25541421
13.
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.
Neurology
; 84(16): 1631-8, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809302
14.
Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation.
Neurobiol Aging
; 35(9): 2179.e7-13, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814676
15.
Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome.
Neurosci Biobehav Rev
; 37(3): 522-47, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23352653
16.
Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation.
Behav Brain Res
; 253: 329-36, 2013 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23896050