Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). (Q52804580)

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scientific article published on 20 February 2008

Language	Label	Description	Also known as
English	Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).	scientific article published on 20 February 2008

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scholarly article

1 reference

Europe PubMed Central

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3 January 2020

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18286225%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

0 references

Machado-Joseph disease

1 reference

based on heuristic

inferred from title

Cristina Santos

3

1 reference

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3 January 2020

4

1 reference

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3 January 2020

Patricia Maciel

6

1 reference

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3 January 2020

7

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3 January 2020

Conceicao Bettencourt

1

1 reference

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3 January 2020

author name string

Raquel Nunes Fialho

2

1 reference

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3 January 2020

Jácome Bruges-Armas

5

1 reference

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3 January 2020

publication date

20 February 2008

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3 January 2020

Journal of Human Genetics

1 reference

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3 January 2020

53

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3 January 2020

4

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3 January 2020

333-339

1 reference

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3 January 2020

https://scigraph.springernature.com/pub.10.1007/s10038-008-0261-7

0 references

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0261-7

21 January 2018

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0261-7

21 January 2018

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meiotic drive at the myotonic dystrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamic mutations: a new class of mutations causing human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved single-strand DNA sizing accuracy in capillary electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite mutations in the germline: implications for evolutionary inference

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for Machado-Joseph disease maps to human chromosome 14q

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genomic structure and expression of MJD, the Machado-Joseph disease gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation distortion of the CTG repeats at the myotonic dystrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improvement in the molecular diagnosis of Machado-Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonrandom segregation during meiosis: the unfairness of females

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolutionary dynamics of microsatellite DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18286225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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