(Q35888939)

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

scientific article published in April 1994

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25 October 2019

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

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25 October 2019

myotonic dystrophy

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inferred from title

1

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25 October 2019

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Willems P

2

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25 October 2019

Coerwinkel M

3

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25 October 2019

Nillesen W

4

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25 October 2019

Smeets H

5

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25 October 2019

Vits L

6

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25 October 2019

Höweler C

7

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25 October 2019

Brunner H

8

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25 October 2019

Wieringa B

9

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25 October 2019

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1 April 1994

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25 October 2019

American Journal of Human Genetics

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25 October 2019

54

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25 October 2019

4

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25 October 2019

575-585

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25 October 2019

Negative expansion of the myotonic dystrophy unstable sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Mouse DNA 'fingerprints': analysis of chromosome localization and germ-line stability of hypervariable loci in recombinant inbred strains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Anticipation in Huntington's disease is inherited through the male line but may originate in the female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Anticipation in myotonic dystrophy: fact or fiction?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Familiarity, recessivity and germline mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Characterization of a highly unstable mouse minisatellite locus: evidence for somatic mutation during early development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Huntington disease: no evidence for locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Fragile X genotype characterized by an unstable region of DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Formation of DNA triplexes accounts for arrests of DNA synthesis at d(TC)n and d(GA)n tracts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Repair of deletions and double-strand gaps by homologous recombination in a mammalian in vitro system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

High-frequency germ line gene conversion in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Fragile-X syndrome: unique genetics of the heritable unstable element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Presymptomatic diagnosis of myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Genotype mosaicism in fragile X fetal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

11 July 2018

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

24 September 2018

A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

24 September 2018

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918095

24 September 2018

Criteria for establishing the validity of genetic recombination in myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repeat unit sequence variation in minisatellites: a novel source of DNA polymorphism for studying variation and mutation by single molecule analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: reverse mutation in myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twin studies in medical research: can they tell us whether diseases are genetically determined?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heritable unstable DNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of the expansion mutation in myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of fragile X syndrome with delayed replication of the FMR1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128954%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128954%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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