(Q37708595)

22 August 2017

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome (English)

1 reference

22 August 2017

1 reference

Carolyn M Yrigollen

1

1 reference

22 August 2017

Blythe Durbin-Johnson

2

1 reference

22 August 2017

Louise Gane

3

1 reference

22 August 2017

David L Nelson

4

1 reference

22 August 2017

Randi Hagerman

5

1 reference

22 August 2017

Paul J Hagerman

6

1 reference

22 August 2017

Flora Tassone

7

1 reference

22 August 2017

language of work or name

English

0 references

publication date

12 April 2012

1 reference

22 August 2017

1 reference

22 August 2017

14

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22 August 2017

8

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22 August 2017

729-736

1 reference

https://scigraph.springernature.com/pub.10.1038/gim.2012.34

22 August 2017

0 references

cites work

DNA base excision repair: a mechanism of trinucleotide repeat expansion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

The role of AGG interruptions in the transcription of FMR1 premutation alleles

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Mechanisms of trinucleotide repeat instability during human development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

The developmental roles of FMRP.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

FMR1: a gene with three faces

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Advances in the treatment of fragile X syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

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.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Fragile X syndrome: diagnostic and carrier testing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Familial transmission of the FMR1 CGG repeat.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Advances in understanding fragile X syndrome and related disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

FMR1 in global populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

A complex mutable polymorphism located within the fragile X gene.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990283

A new look at the statistical model identification

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2012.34

Significance of linkage disequilibrium between the fragile X locus and its flanking markers

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22498846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22498846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2012.34

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

22498846

1 reference