Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies (Q35881922)

10 August 2017

Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies (English)

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10 August 2017

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Goldman A

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10 August 2017

Krause A

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2

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10 August 2017

Ramsay M

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3

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10 August 2017

Jenkins T

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4

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10 August 2017

language of work or name

English

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publication date

1 August 1996

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American Journal of Human Genetics

10 August 2017

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10 August 2017

59

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10 August 2017

2

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10 August 2017

445-452

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Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene

10 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

De novo myotonic dystrophy mutation in a Nigerian kindred.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

A simple salting out procedure for extracting DNA from human nucleated cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

A polymorphic DNA clone which maps to 19q13.2-19qter (D19S62).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Radiation-reduced hybrids for the myotonic dystrophy locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

The 'White" population of South Africa in the eighteenth century

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Familial hypercholesterolaemia--a common genetic disorder in the Afrikaans population.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914714

Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene

24 September 2018

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12 December 2020

Origin of the expansion mutation in myotonic dystrophy

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12 December 2020

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

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12 December 2020

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

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12 December 2020

Ethnic distribution of myotonic dystrophy gene

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12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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12 December 2020

Expansion of unstable DNA region in Japanese myotonic dystrophy patients

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12 December 2020

Identifiers

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10 August 2017

PubMed publication ID

8755933

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