(Q43093468)

13 November 2017

You can build it ... but will they come?: the potential "expansion" of testing methodologies for fragile X syndrome (English)

1 reference

13 November 2017

1 reference

Nicholas T Potter

1

1 reference

13 November 2017

21 May 2009

1 reference

The Journal of Molecular Diagnostics

13 November 2017

1 reference

13 November 2017

11

1 reference

13 November 2017

4

1 reference

13 November 2017

279-280

1 reference

A quantitative ELISA assay for the fragile x mental retardation 1 protein

13 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Abacavir hypersensitivity: a model system for pharmacogenetic test adoption

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Fragile X syndrome: diagnostic and carrier testing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Actively acquired tolerance of foreign cells

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Automated Detection of Trinucleotide Repeats in Fragile X Syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Fragile X genotype characterized by an unstable region of DNA.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

Prenatal diagnosis and carrier screening for fragile X by PCR.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710702

10.2353/JMOLDX.2009.090047

15 August 2018

Identifiers

DOI

1 reference

13 November 2017

1 reference

13 November 2017

1 reference

PMCID

2710702