(Q35230078)

English

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency (English)

1 reference

Europe PubMed Central

7 August 2017

fragile X-associated tremor/ataxia syndrome

0 references

author name string

Sebastien Jacquemont

1

1 reference

Europe PubMed Central

7 August 2017

Stefanie Birnbaum

2

1 reference

Europe PubMed Central

7 August 2017

Silke Redler

3

1 reference

Europe PubMed Central

7 August 2017

Peter Steinbach

4

1 reference

Europe PubMed Central

7 August 2017

Valérie Biancalana

5

1 reference

Europe PubMed Central

7 August 2017

publication date

4 May 2011

1 reference

Europe PubMed Central

7 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

19

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Europe PubMed Central

7 August 2017

9

1 reference

Europe PubMed Central

7 August 2017

843-849

1 reference

Europe PubMed Central

7 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.55

0 references

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Expansion of an FMR1 grey-zone allele to a full mutation in two generations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Advances in the treatment of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

The fragile X prevalence paradox

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

EuroGentest: DNA-based testing for heritable disorders in Europe.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Fragile X syndrome: assessment and treatment implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

The pathophysiology of fragile x syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

The FMR1 premutation and reproduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A cryptic full mutation in a male with a classical fragile X phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Size bias of fragile X premutation alleles in late-onset movement disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Fragile X syndrome: diagnostic and carrier testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Association of FMR1 repeat size with ovarian dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

FMR1 and the fragile X syndrome: human genome epidemiology review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Premature ovarian failure in the fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

An assessment of screening strategies for fragile X syndrome in the UK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Methylation analysis of the fragile X syndrome by PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Studies of FRAXA and FRAXE in women with premature ovarian failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Fragile X premutation screening in women with premature ovarian failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Mental status of females with an FMR1 gene full mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Fine structure of the human FMR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Genotype-phenotype relationships in fragile X syndrome: a family study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

The fragile X premutation in carriers and its effect on mutation size in offspring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

13 July 2018

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Expansion of an intermediate allele of the FMR1 gene in only two generations.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Expansion to full mutation of a FMR1 intermediate allele over two generations.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Association between idiopathic premature ovarian failure and fragile X premutation.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Rapid antibody test for fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Incidence of fragile X in 5,000 consecutive newborn males.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Paternal transmission of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

No evidence of paternal transmission of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

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

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Fragile X syndrome in a normal IQ male with learning and emotional problems.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Normal phenotype in two brothers with a full FMR1 mutation.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Profile of cognitive functioning in women with the fragile X mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Mosaicism for a full mutation and a normal size allele in two fragile X males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Mental status and fragile X expression in relation to FMR-1 gene mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179358

26 September 2018

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.55

21 January 2018

A methylation PCR approach for detection of fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21540884

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/21540884

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2011.55

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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