The fragile X syndrome (Q73484548)

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4 November 2019

review article

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title

The fragile X syndrome (English)

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

4 November 2019

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A T Hoogeveen

1

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4 November 2019

B A Oostra

series ordinal

2

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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

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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

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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

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4 November 2019

issue

2

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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

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https://scigraph.springernature.com/pub.10.1023/a:1005392319533

4 November 2019

exact match

0 references

cites work

The fragile X mental retardation protein is associated with ribosomes

1 reference

12 December 2020

Association of FMRP with ribosomal precursor particles in the nucleolus

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12 December 2020

FMR1 protein: conserved RNP family domains and selective RNA binding

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12 December 2020

Rapid antibody test for fragile X syndrome.

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12 December 2020

Analysis of neocortex in three males with the fragile X syndrome

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12 December 2020

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

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12 December 2020

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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12 December 2020

Alternative splicing in the fragile X gene FMR1.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Translational suppression by trinucleotide repeat expansion at FMR1.

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12 December 2020

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

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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.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Fine structure of the human FMR1 gene

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12 December 2020

Characterization of FMR1 proteins isolated from different tissues

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prevalence of fragile X syndrome

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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.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Conservation of CGG region in FMR1 gene in mammals

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Normal phenotype in two brothers with a full FMR1 mutation.

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12 December 2020

Molecular basis of genetic instability of triplet repeats

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

FMRP is associated to the ribosomes via RNA.

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Dendritic Spine "Dysgenesis" and Mental Retardation

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12 December 2020

Enhanced Fmr-1 expression in testis.

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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

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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

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12 December 2020

Adult fragile X syndrome. Clinico-neuropathologic findings.

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12 December 2020

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

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12 December 2020

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

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12 December 2020