FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles (Q33949054)

30 July 2017

title

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles (English)

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30 July 2017

8

John L Hopper

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30 July 2017

David J Amor

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ORCID Public Data File 2021

Danuta Z Loesch

10

object named as

Danuta Z Loesch

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30 July 2017

David E Godler

1

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30 July 2017

Howard R Slater

2

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30 July 2017

Quang M Bui

3

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30 July 2017

Michele Ono

4

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30 July 2017

Freya Gehling

5

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30 July 2017

David Francis

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30 July 2017

Randi Hagerman

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30 July 2017

publication date

30 June 2011

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The Journal of Molecular Diagnostics

30 July 2017

published in

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30 July 2017

volume

13

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30 July 2017

issue

5

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30 July 2017

page(s)

528-536

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Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

30 July 2017

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Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

28 July 2018

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A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

28 July 2018

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A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome

28 July 2018

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

28 July 2018

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Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles

28 July 2018

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An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

28 July 2018

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28 July 2018

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28 July 2018

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Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

28 July 2018

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Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis

28 July 2018

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Analysis of repetitive element DNA methylation by MethyLight

28 July 2018

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28 July 2018

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Association of FMR1 repeat size with ovarian dysfunction

28 July 2018

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Phenotypic variation and FMRP levels in fragile X.

28 July 2018

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Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine

28 July 2018

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Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

28 July 2018

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Transcription of the FMR1 gene in individuals with fragile X syndrome

28 July 2018

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Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

28 July 2018

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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

28 July 2018

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Mental status of females with an FMR1 gene full mutation

28 July 2018

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High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome

28 July 2018

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Genotype-phenotype relationships in fragile X syndrome: a family study.

28 July 2018

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High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

28 July 2018

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Absence of expression of the FMR-1 gene in fragile X syndrome

28 July 2018

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A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis

28 July 2018

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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

29 October 2018

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A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

29 October 2018

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PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility

29 October 2018

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A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

29 October 2018

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29 October 2018

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Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay

29 October 2018

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Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis

29 October 2018

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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

29 October 2018

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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

29 October 2018

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Dendritic spine structural anomalies in fragile-X mental retardation syndrome

29 October 2018

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FMRP expression as a potential prognostic indicator in fragile X syndrome

29 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157613

Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome

29 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157613

Rapid antibody test for fragile X syndrome

29 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3157613

Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome

29 October 2018

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12 December 2020

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1

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12 December 2020

High-resolution melting for accurate assessment of DNA methylation

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12 December 2020

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

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12 December 2020

10.1016/J.JMOLDX.2011.05.006

Identifiers

DOI

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30 July 2017

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30 July 2017

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