(Q51667052)

9 April 2018

title

Molecular diagnosis of Fragile X syndrome. (English)

1 reference

9 April 2018

1 reference

Christalena Sofocleous

series ordinal

1

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9 April 2018

Aggeliki Kolialexi

series ordinal

2

1 reference

9 April 2018

Ariadni Mavrou

series ordinal

3

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9 April 2018

publication date

1 January 2009

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9 April 2018

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

published in

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9 April 2018

volume

9

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9 April 2018

issue

1

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9 April 2018

page(s)

23-30

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9 April 2018

FMR1 and the fragile X syndrome: human genome epidemiology review

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Mosaicism in fragile X affected males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

The mGluR theory of fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Detection of full fragile X mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

High sensitivity mapping of methylated cytosines

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

DNA methylation analysis techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Screening with the FMR1 protein test among mentally retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Noninvasive test for fragile X syndrome, using hair root analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Timing of the absence of FMR1 expression in full mutation chorionic villi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

The FMR1 premutation and reproduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

The fragile-X premutation: a maturing perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Whole genome microarray analysis of gene expression in subjects with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

A simple and rapid analysis of triplet repeat diseases by expand long PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Standardization of PCR amplification for fragile X trinucleotide repeat measurements

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Consensus characterization of 16 FMR1 reference materials: a consortium study

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

Comprehensive high-throughput arrays for relative methylation (CHARM).

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

The fragile X syndrome: exploring its molecular basis and seeking a treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.9.1.23

21 January 2018

Identifiers

DOI

10.1586/14737159.9.1.23

1 reference

9 April 2018

release_dlgim6ahqzedvi6a2fvuyhy2ri

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dlgim6ahqzedvi6a2fvuyhy2ri

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

9 April 2018