Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? (Q33595666)

28 July 2017

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? (English)

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28 July 2017

Watkiss E

1

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28 July 2017

Webb T

series ordinal

2

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28 July 2017

Bundey S

series ordinal

3

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28 July 2017

language of work or name

English

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publication date

1 August 1993

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Journal of Medical Genetics

28 July 2017

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28 July 2017

30

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28 July 2017

8

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28 July 2017

651-654

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Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

The adrenoleukodystrophies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

Adrenoleucodystrophy: a molecular genetic study in five families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

Adrenoleukodystrophy: phenotypic variability and implications for therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016492

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

30 October 2018

1 reference

12 December 2020

Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus

1 reference

12 December 2020

Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β

1 reference

12 December 2020

Adrenoleukodystrophy: clinical and biochemical manifestations in carriers

1 reference

12 December 2020

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

1 reference

12 December 2020

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.8.651

1 reference

28 July 2017

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28 July 2017

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