(Q36944246)

English

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

scientific article published on 02 October 2008

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

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

1 reference

Europe PubMed Central

17 August 2017

author name string

Anders O H Nygren

1

1 reference

Europe PubMed Central

17 August 2017

Sylvia I Lens

2

1 reference

Europe PubMed Central

17 August 2017

Ralph Carvalho

3

1 reference

Europe PubMed Central

17 August 2017

publication date

2 October 2008

1 reference

Europe PubMed Central

17 August 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

17 August 2017

10

1 reference

Europe PubMed Central

17 August 2017

6

1 reference

Europe PubMed Central

17 August 2017

496-501

1 reference

Europe PubMed Central

17 August 2017

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Transcription, translation and fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

The mGluR theory of fragile X mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

The fragile-X premutation: a maturing perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Expression of the FMR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Standardization of PCR amplification for fragile X trinucleotide repeat measurements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Transcription of the FMR1 gene in individuals with fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

The fragile X mental retardation protein inhibits translation via interacting with mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Evidence that fragile X mental retardation protein is a negative regulator of translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

Automated Detection of Trinucleotide Repeats in Fragile X Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

27 June 2018

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

Prenatal diagnosis and carrier screening for fragile X by PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2570632

4 September 2018

Fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18832455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA

1 reference

https://pubmed.ncbi.nlm.nih.gov/18832455

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/JMOLDX.2008.080053

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

ResearchGate publication ID

0 references

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