(Q50857914)

English

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

0 references

Friedreich ataxia

1 reference

based on heuristic

inferred from title

Francesca Cavalcanti

2

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

author name string

G De Michele

1

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

C Criscuolo

3

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

L Pianese

4

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

A Monticelli

5

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

A Filla

6

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

S Cocozza

7

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

publication date

1 November 1998

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

7

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

12

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

1901-1906

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

Trinucleotide repeat expansions and human genetic disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Dynamic mutations: a new class of mutations causing human disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Trinucleotide repeat length instability and age of onset in Huntington's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Increased trinucleotide repeat instability with advanced maternal age.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.12.1901

21 January 2018

Identifiers

10.1093/HMG/7.12.1901

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/9811933

ResearchGate publication ID

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