(Q33681230)

28 July 2017

title

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene (English)

1 reference

nucleic acid sequence analysis

28 July 2017

main subject

1 reference

1 reference

Delatycki MB

1

1 reference

28 July 2017

Paris D

2

1 reference

28 July 2017

Gardner RJ

3

1 reference

28 July 2017

Forshaw K

4

1 reference

28 July 2017

Nicholson GA

5

1 reference

28 July 2017

Nassif N

6

1 reference

28 July 2017

Williamson R

7

1 reference

28 July 2017

Forrest SM

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

9

1 reference

28 July 2017

page(s)

713-716

1 reference

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Trinucleotide instability: a repeating theme in human inherited disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Clinical and genetic abnormalities in patients with Friedreich's ataxia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051421

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

30 October 2018

1 reference

12 December 2020

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

Complex gene conversion events in germline mutation at human minisatellites

1 reference

12 December 2020

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

1 reference

12 December 2020

DNA triplet repeats and neurologic disease

1 reference

12 December 2020

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

12 December 2020

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

1 reference

12 December 2020

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

1 reference

12 December 2020

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

1 reference

12 December 2020

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.9.713

1 reference

release_zb23ghynobcrjn46kn5da3x6ve

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zb23ghynobcrjn46kn5da3x6ve

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1051421

1 reference

28 July 2017

1 reference