(Q36329311)

English

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.

scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Flora Tassone

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Ruiqin Pan

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Annette K Taylor

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Paul J Hagerman

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

28 December 2007

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

43-49

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Changing perspectives on the benefits of newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

The FMR1 premutation and reproduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 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=2175542

30 September 2017

Newborn screening for fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 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=2175542

30 September 2017

FMR1 and the fragile X syndrome: human genome epidemiology review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

FRAXA and FRAXE: the results of a five year survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 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=2175542

30 September 2017

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

Population studies of the fragile X: a molecular approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of 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=2175542

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

29 June 2018

Screen for excess FMR1 premutation alleles among males with parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 September 2018

Newborn screening for developmental disabilities: reframing presumptive benefit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 September 2018

Prevalence of the fragile X syndrome in African-Americans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 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=2175542

22 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=2175542

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 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=2175542

22 September 2018

Uniform amplification of a mixture of deoxyribonucleic acids with varying GC content

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175542

22 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=2175542

22 September 2018

Prevalence of fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18165273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18165273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/18165273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for fragile X syndrome in women of reproductive age

1 reference

https://pubmed.ncbi.nlm.nih.gov/18165273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18165273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/JMOLDX.2008.070073

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18165273%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

ResearchGate publication ID

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