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Fragile X syndrome
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instance of
scholarly article
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review article
1 reference
stated in
Europe PubMed Central
title
Fragile X syndrome
(English)
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main subject
fragile X syndrome
1 reference
based on heuristic
inferred from title
author
Jeannie Visootsak
series ordinal
2
object named as
Jeannie Visootsak
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author name string
Kathryn B Garber
series ordinal
1
0 references
Stephen T Warren
series ordinal
3
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language of work or name
English
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publication date
June 2008
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published in
European Journal of Human Genetics
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volume
16
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issue
6
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page(s)
666-72
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exact match
https://scigraph.springernature.com/pub.10.1038/ejhg.2008.61
0 references
cites work
Correction of fragile X syndrome in mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Fragile X syndrome: diagnostic and carrier testing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Recent advances in non-competitive mGlu5 receptor antagonists and their potential therapeutic applications
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
FXTAS: a progressive neurologic syndrome associated with Fragile X premutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
The mGluR theory of fragile X mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
The fragile-X premutation: a maturing perspective
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Psychopharmacology in fragile X syndrome--present and future
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Biological and environmental contributions to adaptive behavior in fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Delayed diagnosis of fragile X syndrome--United States, 1990-1999.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
FMR1 and the fragile X syndrome: human genome epidemiology review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Abnormal development of dendritic spines in FMR1 knock-out mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Dendritic anomalies in disorders associated with mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Phenotypic checklist to screen for fragile X syndrome in people with mental retardation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Epilepsy and EEG findings in males with fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Characterization of the full fragile X syndrome mutation in fetal gametes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Mental status of females with an FMR1 gene full mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Psychiatric disorders associated with fragile X in the young female.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Do young boys with fragile X syndrome have macroorchidism?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
An analysis of autism in fifty males with the fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Recurrent otitis media in the fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Fragile X and autism: a multicenter survey.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Cognitive profiles of boys with the fragile X syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Analysis of neocortex in three males with the fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
DNA methylation represses FMR-1 transcription in fragile X syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150
retrieved
24 August 2018
Consideration of connective tissue dysfunction in the fragile X syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18398441
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular-clinical correlations in males with an expanded FMR1 mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18398441
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2008.61
0 references
PMC publication ID
4369150
0 references
PubMed publication ID
18398441
0 references
ResearchGate publication ID
5455180
0 references
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