Normal variation at the myotonic dystrophy locus in global human populations (Q41972483)

14 October 2017

Normal variation at the myotonic dystrophy locus in global human populations (English)

1 reference

14 October 2017

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C Zerylnick

1

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14 October 2017

A Torroni

series ordinal

2

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14 October 2017

S L Sherman

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3

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14 October 2017

S T Warren

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4

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14 October 2017

language of work or name

English

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publication date

1 January 1995

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American Journal of Human Genetics

14 October 2017

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14 October 2017

56

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14 October 2017

1

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14 October 2017

123-130

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Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Genomic organization and transcriptional units at the myotonic dystrophy locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Asian affinities and continental radiation of the four founding Native American mtDNAs

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Genetic epidemiology of myotonic dystrophy in Kagoshima and Okinawa districts in Japan

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Dystrophia myotonica in a Nigerian family

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Identification of variable simple sequence motifs in 19q13.2-qter: Markers for the myotonic dystrophy locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

American Indian prehistory as written in the mitochondrial DNA: a review

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801327

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

3 November 2018

1 reference

12 December 2020

Origin and Diffusion of the Myotonic Dystrophy Gene in the Saguenay Region (Quebec)

1 reference

12 December 2020

Ethnic distribution of myotonic dystrophy gene

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.1320560130

1 reference

14 October 2017

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14 October 2017

PubMed publication ID

7825567

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