FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males (Q34390164)

1 August 2017

title

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

1 reference

1 August 2017

Nolin SL

1

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1 August 2017

Houck GE Jr

2

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1 August 2017

Gargano AD

3

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1 August 2017

Blumstein H

4

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1 August 2017

Dobkin CS

5

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1 August 2017

Brown WT

6

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1 August 2017

language of work or name

English

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publication date

1 September 1999

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

65

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1 August 2017

issue

3

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1 August 2017

page(s)

680-688

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

1 August 2017

cites work

1 reference

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

6 July 2018

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Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

6 July 2018

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

6 July 2018

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The effect of parental gender on the GAA dynamic mutation in the FRDA gene

6 July 2018

1 reference

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Familial transmission of the FMR1 CGG repeat.

6 July 2018

1 reference

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Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

6 July 2018

1 reference

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Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

6 July 2018

1 reference

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Length of uninterrupted CGG repeats determines instability in the FMR1 gene

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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The fragile X premutation in carriers and its effect on mutation size in offspring

6 July 2018

1 reference

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Fragile X gene instability: anchoring AGGs and linked microsatellites

6 July 2018

1 reference

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A father and daughter with fragile X chromosome

6 July 2018

1 reference

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Fragile X trait in a large kindred: transmission also through normal males

6 July 2018

1 reference

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Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells

6 July 2018

1 reference

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Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

6 July 2018

1 reference

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Fragile X genotype characterized by an unstable region of DNA.

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

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=1377974

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Fragile-X syndrome: unique genetics of the heritable unstable element

6 July 2018

1 reference

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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=1377974

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease 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=1377974

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Characterization of the full fragile X syndrome mutation in fetal gametes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

FRAXE mutation analysis in three Spanish families

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Mosaicism in fragile X affected males.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377974

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

27 October 2018

1 reference

12 December 2020

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

1 reference

12 December 2020

CAG repeat length variation in sperm from a patient with Kennedy's disease

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

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

12 December 2020

Repeat expansion--all in a flap?

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

1 reference

12 December 2020

Segregation of the fragile X mutation from an affected male to his normal daughter

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

1 reference

12 December 2020

Complex gene conversion events in germline mutation at human minisatellites

1 reference

12 December 2020

Expansions of CAG Repeat Tracts are Frequent in a Yeast Mutant Defective in Okazaki Fragment Maturation

1 reference

12 December 2020

Expansion and Length-Dependent Fragility of CTG Repeats in Yeast

1 reference

12 December 2020

Identifiers

DOI

10.1086/302543

1 reference

1 August 2017

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1 August 2017

1 reference