(Q33906053)

29 July 2017

title

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract (English)

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ORCID Public Data File 2021

29 July 2017

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author name string

Christina L Liquori

1

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29 July 2017

Yoshio Ikeda

2

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29 July 2017

Marcy Weatherspoon

3

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29 July 2017

Kenneth Ricker

4

1 reference

29 July 2017

Benedikt G H Schoser

5

1 reference

29 July 2017

Joline C Dalton

6

1 reference

29 July 2017

John W Day

7

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29 July 2017

Laura P W Ranum

8

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29 July 2017

language of work or name

English

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publication date

22 September 2003

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American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

volume

73

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29 July 2017

issue

4

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29 July 2017

page(s)

849-862

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Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

A polymorphic GT repeat from the human cardiac Na+Ca2+ exchanger intron 2 activates splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Myotonic dystrophy and proximal myotonic myophathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Genetic mapping of a second myotonic dystrophy locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Segregation distortion of the CTG repeats at the myotonic dystrophy locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Mutation of human short tandem repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Organization of the gene encoding cellular nucleic acid-binding protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180607

Myotonic dystrophy with no trinucleotide repeat expansion

10 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1 reference

12 December 2020

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

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1086/378720

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29 July 2017

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29 July 2017

1 reference