(Q45866481)

17 December 2017

title

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females (English)

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17 December 2017

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Nisa K Renault

1

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17 December 2017

Sarah Dyack

2

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17 December 2017

Melanie J Dobson

3

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17 December 2017

Teresa Costa

4

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17 December 2017

Wan L Lam

5

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17 December 2017

Wenda L Greer

6

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17 December 2017

publication date

7 March 2007

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17 December 2017

European Journal of Human Genetics

published in

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17 December 2017

volume

15

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17 December 2017

issue

6

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17 December 2017

page(s)

628-637

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17 December 2017

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Parental source of chromosome imprinting and its relevance for X chromosome inactivation.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Requirement for Xist in X chromosome inactivation

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Case of acute lymphoblastic leukemia presenting with t(14;18)/BCL2, t(8;14)/cMYC, and t(1;2)/FCGR2B

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Characterization and expression of a cDNA encoding the human androgen receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

X-inactivation patterns in human embryonic and extra-embryonic tissues.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Late DNA Replication in the Paternally Derived X Chromosome of Female Kangaroos

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

21 January 2018

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7 January 2021

A tiling resolution DNA microarray with complete coverage of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

Coagulation and fibrinolysis during the normal menstrual cycle.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

Impaired circadian variations of haemostatic and fibrinolytic parameters in tetraplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

Preferential expression of the maternally derived X chromosome in the mouse yolk sac

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

Genetic and parent-of-origin influences on X chromosome choice in Xce heterozygous mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201799

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201799

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17 December 2017

Dimensions Publication ID

1003459312

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17 December 2017