(Q51024877)

http://europepmc.org/abstract/MED/25974833

27 March 2018

title

X-chromosome inactivation in female patients with Fabry disease. (English)

1 reference

http://europepmc.org/abstract/MED/25974833

27 March 2018

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Dominique Eladari

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Dominique P Germain

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

L Echevarria

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

K Benistan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

A Toussaint

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

O Dubourg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

F Jabbour

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

C Beldjord

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

P De Mazancourt

9

1 reference

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11 June 2020

publication date

14 May 2015

1 reference

http://europepmc.org/abstract/MED/25974833

27 March 2018

published in

Clinical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

1

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11 June 2020

page(s)

44-54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

21 January 2018

1 reference

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

21 January 2018

1 reference

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

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

21 January 2018

1 reference

A skewed view of X chromosome inactivation

21 January 2018

1 reference

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree

21 January 2018

1 reference

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

21 January 2018

1 reference

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

21 January 2018

1 reference

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

21 January 2018

1 reference

X-inactivation in Fabry disease.

21 January 2018

1 reference

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

21 January 2018

1 reference

A validated disease severity scoring system for Fabry disease.

21 January 2018

1 reference

Three new loci for determining x chromosome inactivation patterns.

21 January 2018

1 reference

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

21 January 2018

1 reference

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

21 January 2018

1 reference

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

21 January 2018

1 reference

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

21 January 2018

1 reference

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

21 January 2018

1 reference

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

21 January 2018

1 reference

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

21 January 2018

1 reference

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 January 2018

1 reference

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

21 January 2018

1 reference

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

21 January 2018

1 reference

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation

21 January 2018

1 reference

The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker

21 January 2018

1 reference

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

21 January 2018

1 reference

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

21 January 2018

1 reference

Non-random X chromosome inactivation in mammalian cells.

21 January 2018

1 reference

PORCN mutations in focal dermal hypoplasia: coping with lethality

21 January 2018

1 reference

The causes and consequences of random and non-random X chromosome inactivation in humans

21 January 2018

1 reference

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

21 January 2018

1 reference

Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies

21 January 2018

1 reference

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.

21 January 2018

1 reference

Pathogenic cascades in lysosomal disease-Why so complex?

21 January 2018

1 reference

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

21 January 2018

1 reference

MPS II in females: molecular basis of two different cases

21 January 2018

1 reference

Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.

21 January 2018

1 reference

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json

release_2z633r6ddncxnmv3haibjjli6e

11 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2z633r6ddncxnmv3haibjjli6e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25974833%20AND%20SRC:MED&resulttype=core&format=json