(Q37217477)

19 August 2017

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range (English)

1 reference

19 August 2017

2

Dana C Crawford

1 reference

19 August 2017

Amy K Sullivan

1

1 reference

19 August 2017

Elizabeth H Scott

series ordinal

3

1 reference

19 August 2017

Mary L Leslie

series ordinal

4

1 reference

19 August 2017

Stephanie L Sherman

series ordinal

5

1 reference

19 August 2017

language of work or name

English

0 references

publication date

3 May 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

1 reference

19 August 2017

6

1 reference

19 August 2017

1532-1544

1 reference

FRAXA and FRAXE: the results of a five year survey

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Examination of factors associated with instability of the FMR1 CGG repeat.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Familial transmission of the FMR1 CGG repeat.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Mutation of human short tandem repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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=379140

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=379140

Simple tandem DNA repeats and human genetic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Fragile X gene instability: anchoring AGGs and linked microsatellites

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Trinucleotide instability: a repeating theme in human inherited disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Absence of expression of the FMR-1 gene in fragile X syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

DNA methylation represses FMR-1 transcription in fragile X syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379140

Fragile X founder effect?

3 September 2018

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

Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics

1 reference

12 December 2020

Precursor arrays for triplet repeat expansion at the fragile X locus

1 reference

12 December 2020

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range

1 reference

12 December 2020

Trinucleotide repeat expansion and human disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/340846

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

11992259

1 reference