(Q34112017)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Emmanuel K Peprah

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Emily G Allen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Laresa M Woodard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Stephanie L Sherman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

1 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

published in

Annals of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

74

1 reference

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6 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

316-325

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

FMR1 and the fragile X syndrome: human genome epidemiology review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American 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=4149914

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs 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=4149914

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Base-calling of automated sequencer traces using phred. II. Error probabilities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the 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=4149914

Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan 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=4149914

FMR1 in global 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=4149914

Population dynamics of a meiotic/mitotic expansion model for the 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=4149914

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Length of uninterrupted CGG repeats determines instability in 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=4149914

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general 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=4149914

A population-based study on the causes of mild and severe 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=4149914

Fragile X gene instability: anchoring AGGs and linked microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in 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=4149914

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

DNA methylation represses FMR-1 transcription in 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=4149914

Fragile X carrier screening and FMR1 allele distribution in the Japanese 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=4149914

The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

A population-based study in Ghana to investigate inter-individual variation in plasma t-PA and PAI-1

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Genetic diversity at the FMR1 locus in Mexican population.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Prevalence of the fragile X syndrome in African-Americans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Stability of the FMR1 CGG repeat in a Basque sample.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Striking founder effect for the fragile X syndrome in Finland.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Prevalence of fra(X) in the county of Funen in Denmark is lower than expected.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4149914

Fragile X founder effect?

28 October 2018

1 reference

12 December 2020

Founder effect in a Belgian-Dutch fragile X population

1 reference

12 December 2020

Strong founder effect for the fragile X syndrome in Sweden

1 reference

12 December 2020

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity

1 reference

12 December 2020

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations

1 reference

12 December 2020

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

1 reference

12 December 2020

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR

1 reference

12 December 2020

10.1111/J.1469-1809.2010.00582.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20597902%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20597902

1 reference