(Q52804580)

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

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

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

PubMed publication ID

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

Europe PubMed Central

PubMed publication ID

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

3 January 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

Patricia Maciel

6

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

7

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

Conceicao Bettencourt

1

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

author name string

Raquel Nunes Fialho

2

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

Jácome Bruges-Armas

5

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

publication date

20 February 2008

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

53

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

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

3 January 2020

333-339

1 reference

Europe PubMed Central

PubMed publication ID

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

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

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q52804580&oldid=1507951171"