Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. (Q35888939)

From Wikidata

Jump to navigation Jump to search

scientific article published in April 1994

Language	Label	Description	Also known as
English	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

Statements

scholarly article

1 reference

Europe PubMed Central

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

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)

1 reference

Europe PubMed Central

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

25 October 2019

myotonic dystrophy

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

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

25 October 2019

author name string

Willems P

2

1 reference

Europe PubMed Central

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

25 October 2019

Coerwinkel M

3

1 reference

Europe PubMed Central

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

25 October 2019

Nillesen W

4

1 reference

Europe PubMed Central

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

25 October 2019

Smeets H

5

1 reference

Europe PubMed Central

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

25 October 2019

Vits L

6

1 reference

Europe PubMed Central

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

25 October 2019

Höweler C

7

1 reference

Europe PubMed Central

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

25 October 2019

Brunner H

8

1 reference

Europe PubMed Central

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

25 October 2019

Wieringa B

9

1 reference

Europe PubMed Central

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

25 October 2019

language of work or name

0 references

publication date

1 April 1994

1 reference

Europe PubMed Central

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

25 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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

25 October 2019

54

1 reference

Europe PubMed Central

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

25 October 2019

4

1 reference

Europe PubMed Central

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

25 October 2019

575-585

1 reference

Europe PubMed Central

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

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

Identifiers

1 reference

Europe PubMed Central

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

25 October 2019

1 reference

Europe PubMed Central

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

25 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35888939&oldid=1711137191"