(Q71958937)

English

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

scientific article published on 01 August 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

J Azofeifa

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

T Voit

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

C Hübner

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 August 1995

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

96

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

167-176

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00207374

0 references

Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary non-random X-inactivation caused by controlling elements in the mouse demonstrated at the cellular level

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for preferential X-chromosome inactivation in a family with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The manifesting carrier in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of the DXS255 hypervariable locus 5' CCGG site may be affected by factors other than X-chromosome activation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Controlling elements in the mouse. V. Linkage tests with X-linked genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primordial cell pool size and lineage relationships of five human cell types

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hypervariable DXS255 locus contains a LINE-1 repetitive element with a CpG island that is extensively methylated only on the active X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscular dystrophy in young girls

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of a female manifesting Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct visualization of the dystrophin network on skeletal muscle fiber membrane

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian X-chromosome inactivation and the XIST gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Xp21 dystrophin and 6q dystrophin-related protein. Comparative immunolocalization using multiple antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of X-chromosome regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CpG-rich islands and the function of DNA methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7635465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00207374

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635465%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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