(Q35643691)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

1 reference

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26 October 2019

Wong LJ

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Ashizawa T

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Caskey CT

series ordinal

1 reference

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26 October 2019

Richards CS

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

language of work or name

English

0 references

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

1 reference

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26 October 2019

issue

1 reference

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26 October 2019

page(s)

114-122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

Negative expansion of the myotonic dystrophy unstable sequence.

26 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Somatic instability of CTG repeat in myotonic dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Myotonic dystrophy reviewed: back to the future?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Anticipation in myotonic dystrophy: new light on an old problem

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Methylation and mutation patterns in the fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Dynamic mutations: a new class of mutations causing human disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801291

Complex gene conversion events in germline mutation at human minisatellites

25 September 2018

1 reference

12 December 2020

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

1 reference

12 December 2020

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

1 reference

12 December 2020

Unstable DNA sequence in myotonic dystrophy

1 reference

12 December 2020

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

12 December 2020

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

1 reference

12 December 2020

Brief report: reverse mutation in myotonic dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

1 reference

12 December 2020

CTG trinucleotide repeat variability in identical twins with myotonic dystrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

7825566

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7825566%20AND%20SRC:MED&resulttype=core&format=json