(Q40868842)

24 September 2017

title

In vitro reactivation of the FMR1 gene involved in fragile X syndrome (English)

1 reference

24 September 2017

In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome (English)

1 reference

regulation of gene expression

26 November 2024

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

M. G. Pomponi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

P. Chiurazzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

R. Willemsen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

B. A. Oostra

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

G. Neri

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9384610

26 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9384610

26 November 2024

publication date

1 January 1998

1 reference

24 September 2017

January 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9384610

26 November 2024

published in

Human Molecular Genetics

1 reference

24 September 2017

1 reference

24 September 2017

1 reference

24 September 2017

page(s)

109-113

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

24 September 2017

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

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 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

In vitro DNA methylation inhibits FMR-1 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Hemimethylation and hypersensitivity are early events in transcriptional reactivation of human inactive X-linked genes in a hamster x human somatic cell hybrid

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Role of late replication timing in the silencing of X-linked genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Molecular heterogeneity of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.109

American Journal of Human Genetics

21 January 2018

800

McConkie-Rosell

1993

1 reference

American Journal of Human Genetics

26 November 2024

1064

Loesch

1993

1 reference

American Journal of Human Genetics

26 November 2024

609

de Graaff

1995

1 reference

Brief report: treatment with azacitidine of patients with end-stage beta-thalassemia

26 November 2024

1 reference

A routine method for the establishment of permanent growing lymphoblastoid cell lines

26 November 2024

1 reference

26 November 2024

Identifiers

DOI

10.1093/HMG/7.1.109

1 reference

24 September 2017

1 reference