The fragile X syndrome (Q73484548)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

review article

1 reference

title

The fragile X syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

A T Hoogeveen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

B A Oostra

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

139-151

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9211186%20AND%20SRC:MED&resulttype=core&format=json

The fragile X mental retardation protein is associated with ribosomes

4 November 2019

cites work

1 reference

12 December 2020

Association of FMRP with ribosomal precursor particles in the nucleolus

1 reference

12 December 2020

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

1 reference

12 December 2020

Rapid antibody test for fragile X syndrome.

1 reference

12 December 2020

Analysis of neocortex in three males with the fragile X syndrome

1 reference

12 December 2020

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

1 reference

12 December 2020

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

12 December 2020

Alternative splicing in the fragile X gene FMR1.

1 reference

12 December 2020

Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1

1 reference

12 December 2020

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

1 reference

12 December 2020

Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

1 reference

12 December 2020

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

1 reference

12 December 2020

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

1 reference

12 December 2020

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

12 December 2020

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Primary structure and binding activity of the hnRNP U protein: binding RNA through RGG box

1 reference

12 December 2020

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

1 reference

12 December 2020

Fine structure of the human FMR1 gene

1 reference

12 December 2020

Characterization of FMR1 proteins isolated from different tissues

1 reference

12 December 2020

FXR1, an autosomal homolog of the fragile X mental retardation gene

1 reference

12 December 2020

gld-1, a tumor suppressor gene required for oocyte development in Caenorhabditis elegans

1 reference

12 December 2020

Prevalence of fragile X syndrome

1 reference

12 December 2020

Mutations in gld-1, a female germ cell-specific tumor suppressor gene in Caenorhabditis elegans, affect a conserved domain also found in Src-associated protein Sam68

1 reference

12 December 2020

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

1 reference

12 December 2020

A point mutation in the FMR-1 gene associated with fragile X mental retardation

1 reference

12 December 2020

Conservation of CGG region in FMR1 gene in mammals

1 reference

12 December 2020

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

1 reference

12 December 2020

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

1 reference

12 December 2020

Normal phenotype in two brothers with a full FMR1 mutation.

1 reference

12 December 2020

Molecular basis of genetic instability of triplet repeats

1 reference

12 December 2020

Standards for selected anthropometric measurements in males with the fragile X syndrome

1 reference

12 December 2020

Analysis of the multiple roles of gld-1 in germline development: interactions with the sex determination cascade and the glp-1 signaling pathway

1 reference

12 December 2020

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

12 December 2020

Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome

1 reference

12 December 2020

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

1 reference

12 December 2020

The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2

1 reference

12 December 2020

FMRP is associated to the ribosomes via RNA.

1 reference

12 December 2020

The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein.

1 reference

12 December 2020

The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains

1 reference

12 December 2020

EBNA-1, the major nuclear antigen of Epstein-Barr virus, resembles 'RGG' RNA binding proteins.

1 reference

12 December 2020

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

12 December 2020

Dendritic Spine "Dysgenesis" and Mental Retardation

1 reference

12 December 2020

Enhanced Fmr-1 expression in testis.

1 reference

12 December 2020

Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Adult fragile X syndrome. Clinico-neuropathologic findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

1 reference

12 December 2020