Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
Hum Mol Genet;
21(24): 5373-84, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22976474
5.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24778142
6.
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
7.
Does eczema in infancy cause hay fever, asthma, or both in childhood? Insights from a novel regression model of sibling data.
J Allergy Clin Immunol;
130(5): 1117-1122.e1, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23021888
8.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22235103
9.
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Genet Med;
13(5): 392-9, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21270637
10.
A varying coefficient model to measure the effectiveness of mass media anti-smoking campaigns in generating calls to a Quitline.
J Epidemiol;
20(6): 473-9, 2010.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20827036
11.
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.
J Med Genet;
44(3): 200-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16905681
12.
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
13.
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.
Neurosci Biobehav Rev;
31(3): 315-26, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17097142
14.
Autism spectrum phenotype in males and females with fragile X full mutation and premutation.
J Autism Dev Disord;
37(4): 738-47, 2007 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17031449
15.
Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.
Neurobiol Aging;
50: 5-12, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27837676
16.
Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk.
Cancer Epidemiol Biomarkers Prev;
25(12): 1619-1624, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27539266
17.
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
18.
Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.
Neuropsychology;
17(4): 646-657, 2003 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14599277
19.
Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis.
J Dev Behav Pediatr;
23(6): 416-23, 2002 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12476071
20.
The heterogeneity in femoral neck structure and strength.
J Bone Miner Res;
28(5): 1022-8, 2013 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23197364