Fragile X syndrome (Q56091828)

European Journal of Human Genetics

Europe PubMed Central

title

Fragile X syndrome (English)

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1 reference

2

Jeannie Visootsak

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author name string

Kathryn B Garber

series ordinal

1

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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

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volume

16

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issue

6

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page(s)

666-72

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cites work

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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders

24 August 2018

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Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial

24 August 2018

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Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

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Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

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Fragile X syndrome: diagnostic and carrier testing

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Recent advances in non-competitive mGlu5 receptor antagonists and their potential therapeutic applications

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FXTAS: a progressive neurologic syndrome associated with Fragile X premutation

24 August 2018

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Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.

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Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

24 August 2018

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Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

24 August 2018

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Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy

24 August 2018

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Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

24 August 2018

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The mGluR theory of fragile X mental retardation

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The fragile-X premutation: a maturing perspective

24 August 2018

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Psychopharmacology in fragile X syndrome--present and future

24 August 2018

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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

24 August 2018

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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

24 August 2018

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Biological and environmental contributions to adaptive behavior in fragile X syndrome.

24 August 2018

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Delayed diagnosis of fragile X syndrome--United States, 1990-1999.

24 August 2018

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FMR1 and the fragile X syndrome: human genome epidemiology review

24 August 2018

1 reference

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Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Abnormal development of dendritic spines in FMR1 knock-out mice

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Dendritic anomalies in disorders associated with mental retardation

24 August 2018

1 reference

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Phenotypic checklist to screen for fragile X syndrome in people with mental retardation.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Epilepsy and EEG findings in males with fragile X syndrome.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Characterization of the full fragile X syndrome mutation in fetal gametes

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Mental status of females with an FMR1 gene full mutation

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Psychiatric disorders associated with fragile X in the young female.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Do young boys with fragile X syndrome have macroorchidism?

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

An analysis of autism in fifty males with the fragile X syndrome

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Recurrent otitis media in the fragile X syndrome.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Fragile X and autism: a multicenter survey.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Cognitive profiles of boys with the fragile X syndrome.

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Analysis of neocortex in three males with the fragile X syndrome

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

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

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

DNA methylation represses FMR-1 transcription in fragile X syndrome

24 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4369150

Consideration of connective tissue dysfunction in the fragile X syndrome

24 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18398441

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular-clinical correlations in males with an expanded FMR1 mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18398441