(Q34267174)

1 August 2017

An n-allele model for progressive amplification in the FMR1 locus (English)

1 reference

1 August 2017

2

Morton NE

1 reference

1 August 2017

Morris A

1

1 reference

1 August 2017

Collins A

3

1 reference

1 August 2017

Macpherson J

4

1 reference

1 August 2017

Nelson D

5

1 reference

1 August 2017

Sherman S

6

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

1 reference

1 August 2017

92

1 reference

1 August 2017

11

1 reference

1 August 2017

4833-4837

1 reference

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Frequency and stability of the fragile X premutation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=41801

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=41801

Precursor arrays for triplet repeat expansion at the fragile X locus

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7761409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Conservation of CGG region in FMR1 gene in mammals

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7761409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Trinucleotide diseases on the rise

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7761409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.92.11.4833

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference