A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis (Q33947099)

30 July 2017

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

1 reference

30 July 2017

0 references

Elaine Lyon

1

1 reference

30 July 2017

Thomas Laver

2

1 reference

30 July 2017

Ping Yu

3

1 reference

30 July 2017

Mohamed Jama

4

1 reference

30 July 2017

Keith Young

5

1 reference

30 July 2017

Michael Zoccoli

6

1 reference

30 July 2017

Natalia Marlowe

7

1 reference

30 July 2017

29 April 2010

1 reference

The Journal of Molecular Diagnostics

30 July 2017

1 reference

30 July 2017

12

1 reference

30 July 2017

4

1 reference

30 July 2017

505-511

1 reference

Methyl-CpG-binding PCR of bloodspots for confirmation of fragile X syndrome in males

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Expansion of an FMR1 grey-zone allele to a full mutation in two generations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

A review of fragile X premutation disorders: expanding the psychiatric perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

A novel function for fragile X mental retardation protein in translational activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Consensus characterization of 16 FMR1 reference materials: a consortium study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Molecular diagnosis and genetic counseling for fragile X mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Fragile X-associated tremor/ataxia syndrome (FXTAS).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Screening for fragile X syndrome: a literature review and modelling study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

A decade of molecular studies of fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Premature ovarian failure and the FMR1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

A general method for the detection of large CAG repeat expansions by fluorescent PCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Fragile X syndrome detection in newborns-pilot study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Autistic spectrum disorder and the fragile X premutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Prevalence of the fragile X syndrome in African-Americans

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Prenatal diagnosis and carrier screening for fragile X by PCR.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893636

Screening for fragile X syndrome in women of reproductive age

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20431035

12 December 2020

inferred from PubMed ID database lookup

Prevalence of fragile X syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20431035

12 December 2020

inferred from PubMed ID database lookup

Attitudes toward prenatal screening and testing for Fragile X

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20431035

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.2353/JMOLDX.2010.090229

1 reference

release_yld66b442vdc5lho5fvwolua6y

30 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yld66b442vdc5lho5fvwolua6y

24 November 2022

mapped directly with Wikidata item

PMCID

2893636

1 reference

30 July 2017

1 reference