(Q33527737)

27 July 2017

title

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

1 reference

27 July 2017

8

Devika Ganesamoorthy

1 reference

27 July 2017

David Eugeny Godler

1

0 references

Flora Tassone

2

object named as

Flora Tassone

1 reference

27 July 2017

author name string

Danuta Zuzanna Loesch

3

1 reference

27 July 2017

Annette Kimball Taylor

4

1 reference

27 July 2017

Freya Gehling

5

1 reference

27 July 2017

Randi Jenssen Hagerman

6

1 reference

27 July 2017

Trent Burgess

7

1 reference

27 July 2017

Debbie Hennerich

9

1 reference

27 July 2017

Lavinia Gordon

10

1 reference

27 July 2017

Andrew Evans

11

1 reference

27 July 2017

K H Choo

12

1 reference

27 July 2017

Howard Robert Slater

13

1 reference

27 July 2017

language of work or name

1 reference

29 January 2010

1 reference

27 July 2017

published in

Human Molecular Genetics

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27 July 2017

volume

19

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27 July 2017

issue

8

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27 July 2017

page(s)

1618-1632

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Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

27 July 2017

cites work

1 reference

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Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene

21 June 2018

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Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

21 June 2018

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21 June 2018

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21 June 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

21 June 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).

21 June 2018

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A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome

21 June 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.

21 June 2018

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21 June 2018

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An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

21 June 2018

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Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements

21 June 2018

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Functional demarcation of active and silent chromatin domains in human HOX loci by noncoding RNAs

21 June 2018

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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.

21 June 2018

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

21 June 2018

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The GATA2 transcription factor negatively regulates the proliferation of neuronal progenitors

21 June 2018

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RNA integrity and the effect on the real-time qRT-PCR performance

21 June 2018

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Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry

21 June 2018

1 reference

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Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

21 June 2018

1 reference

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Association of FMR1 repeat size with ovarian dysfunction

21 June 2018

1 reference

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Molecular dissection of the events leading to inactivation of the FMR1 gene

21 June 2018

1 reference

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Aging in individuals with the FMR1 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Phenotypic variation and FMRP levels in fragile X.

21 June 2018

1 reference

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Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

X chromosome inactivation: theme and variations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Comprehensive analysis of CpG islands in human chromosomes 21 and 22

21 June 2018

1 reference

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Transcription of the FMR1 gene in individuals with fragile X syndrome

21 June 2018

1 reference

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Premature ovarian failure in the fragile X syndrome

21 June 2018

1 reference

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21 June 2018

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Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome

21 June 2018

1 reference

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Dendritic spine structural anomalies in fragile-X mental retardation syndrome

21 June 2018

1 reference

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Understanding the molecular basis of fragile X syndrome

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

21 June 2018

1 reference

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Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Mental status of females with an FMR1 gene full mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

CpG islands in vertebrate genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Fragile X genotype characterized by an unstable region of DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Molecular diagnosis of Fragile X syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Phenotype of V2-derived interneurons and their relationship to the axon guidance molecule EphA4 in the developing mouse spinal cord.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

The bHLH transcription factor hand2 is essential for noradrenergic differentiation of sympathetic neurons

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Methylation-dependent fragment separation: direct detection of DNA methylation by capillary electrophoresis of PCR products from bisulfite-converted genomic DNA.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Identification of small FRAXA premutations.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2846165

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

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20118148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20118148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20118148

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ037

1 reference

27 July 2017

1 reference

27 July 2017

1 reference