(Q33677678)

English

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

based on heuristic

inferred from title

author name string

Redonnet-Vernhet I

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ploos van Amstel JK

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Jansen RP

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Wevers RA

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Salvayre R

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Levade T

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 August 1996

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

682-688

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Evaluation of 13 short tandem repeat loci for use in personal identification applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Clonal evolution in human lymphoblast cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Mechanisms of X-chromosome regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Do twin Lyons have larger spots?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Relationship Between Biochemical and Clinical Features in an English Anderson-Fabry Family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Detection of Fabry's disease heterozygotes by hair root analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050704

28 July 2018

Genomic imprinting, monozygous twinning, and X inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different phenotypic expression of Fabry disease in female monozygotic twins

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry's disease: heterozygous form of different expression in two monozygous twin sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New point mutation (R301X) of the α-galactosidase a gene causing fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic aspects of angiokeratoma corporis diffusum

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anomalous X chromosome inactivation: the link between female zygotes, monozygotic twinning, and neural tube defects?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863162

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.8.682

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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