(Q33595466)

28 July 2017

title

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia (English)

1 reference

Andrew Oliver Mungo Wilkie

28 July 2017

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Coagulation factor VIII

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author

series ordinal

4

1 reference

28 July 2017

Coleman R

1

1 reference

28 July 2017

Genet SA

series ordinal

2

1 reference

28 July 2017

Harper JI

series ordinal

3

1 reference

28 July 2017

language of work or name

English

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publication date

1 June 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

30

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28 July 2017

issue

6

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28 July 2017

page(s)

497-500

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Characterization of the human factor VIII gene

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Detection of factor VIII/coagulant antigen in human liver tissue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Two cases of X/autosome translocation in females with incontinentia pigmenti.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Distribution of factor VIII mRNA and antigen in human liver and other tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Development of the human coagulation system in the full-term infant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Nonrandom X chromosome DNA methylation patterns in hemophiliac females

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Studies on clonality by PCR analysis of the PGK-1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Incontinentia pigmenti. A world statistical analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Haemophilia treatment in the United Kingdom from 1969 to 1974.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016424

Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal 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=1016424

30 October 2018

1 reference

12 December 2020

Localization of factor VIII-procoagulant antigen: an immunohistological survey of the human body using monoclonal antibodies

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

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

Identifiers

DOI

10.1136/JMG.30.6.497

1 reference

28 July 2017

1 reference

28 July 2017

1 reference