X inactivation of the FMR1 fragile X mental retardation gene (Q33682895)

28 July 2017

title

X inactivation of the FMR1 fragile X mental retardation gene (English)

1 reference

28 July 2017

C U Kirchgessner

1

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28 July 2017

S T Warren

series ordinal

2

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28 July 2017

H F Willard

series ordinal

3

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28 July 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

12

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28 July 2017

page(s)

925-929

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Advances in molecular analysis of fragile X syndrome

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=1051769

High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome

21 June 2018

1 reference

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DNA methylation of the fragile X locus in somatic and germ cells during fetal development: relevance to the fragile X syndrome and X inactivation.

21 June 2018

1 reference

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Escape from X inactivation in human and mouse

21 June 2018

1 reference

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Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

21 June 2018

1 reference

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The cell surface antigen locus, MIC2X, escapes X-inactivation

21 June 2018

1 reference

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Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis

21 June 2018

1 reference

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Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

21 June 2018

1 reference

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Fragile X syndrome: a unique mutation in man.

21 June 2018

1 reference

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X chromosome inactivation of the human TIMP gene.

21 June 2018

1 reference

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Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

21 June 2018

1 reference

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Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.

21 June 2018

1 reference

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Fragile X genotype characterized by an unstable region of DNA.

21 June 2018

1 reference

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Absence of expression of the FMR-1 gene in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 June 2018

1 reference

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Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: application of the probe M27 beta to evaluate X inactivation status

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant 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=1051769

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Methylation analysis of CGG sites in the CpG island of the human FMR1 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=1051769

X-linked Hunter syndrome: the heterozygous phenotype in cell culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

X-linked mental retardation: a study of 7 families.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

The marker (X) syndrome: a cytogenetic and genetic analysis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051769

Epigenetic and Chromosomal Control of Gene Expression: Molecular and Genetic Analysis of X Chromosome Inactivation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825916

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.12.925

1 reference

28 July 2017

1 reference

28 July 2017

1 reference