(Q45881648)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15741993%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A (English)

1 reference

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9 January 2020

0 references

0 references

Angelo Claudio Molinari

7

1 reference

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9 January 2020

2

Barbara R Migeon

1 reference

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9 January 2020

author name string

Maria Patrizia Bicocchi

1

1 reference

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9 January 2020

Mirella Pasino

3

1 reference

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9 January 2020

Tiziana Lanza

4

1 reference

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9 January 2020

Federico Bottini

5

1 reference

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9 January 2020

Elio Boeri

6

1 reference

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9 January 2020

Fabio Corsolini

8

1 reference

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9 January 2020

Cristina Morerio

9

1 reference

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9 January 2020

Maura Acquila

10

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9 January 2020

publication date

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15741993%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 January 2020

published in

1 reference

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9 January 2020

volume

13

1 reference

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9 January 2020

page(s)

635-640

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9 January 2020

issue

5

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201386

9 January 2020

exact match

0 references

cites work

Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Nonrandom X chromosome DNA methylation patterns in hemophiliac females

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

X Inactivation in Females with X-Linked Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Non-random X chromosome inactivation in mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

X-chromosome inactivation: counting, choice and initiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Autosomal dominant mutations affecting X inactivation choice in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Evolutionary conservation of possible functional domains of the human and murine XIST genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Evaluation of DHPLC in the analysis of hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Analysis of 18 novel mutations in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

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.5201386

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

inferred from DOI database lookup

7 January 2021

based on heuristic

Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201386

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15741993%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 January 2020

0 references

1 reference