FMR1 and the fragile X syndrome: human genome epidemiology review (Q34362009)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

review article

1 reference

title

FMR1 and the fragile X syndrome: human genome epidemiology review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

J M Acuña

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S L Sherman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 September 2001

1 reference

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11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

3

1 reference

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11 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

359-371

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

11 November 2019

cites work

1 reference

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Transcription of the FMR1 gene in individuals with fragile X syndrome

6 July 2018

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Premature ovarian failure in the fragile X syndrome

6 July 2018

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6 July 2018

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Evidence that fragile X mental retardation protein is a negative regulator of translation

6 July 2018

1 reference

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Monozygotic boys with fragile X syndrome

6 July 2018

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Cognitive and behavioral profile of fragile X boys: correlations to molecular data

6 July 2018

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Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein

6 July 2018

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Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

6 July 2018

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Advances in research on the fragile X syndrome

6 July 2018

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FRAXA and FRAXE: the results of a five year survey

6 July 2018

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Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan

6 July 2018

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Prevalence and clinical characteristics of fragile X syndrome at child development clinic, Ramathibodi Hospital

6 July 2018

1 reference

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Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

6 July 2018

1 reference

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Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex

6 July 2018

1 reference

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A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

6 July 2018

1 reference

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Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

6 July 2018

1 reference

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FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Noninvasive test for fragile X syndrome, using hair root analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

FMRP expression as a potential prognostic indicator in fragile X syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

6 July 2018

1 reference

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Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Screening with the FMR1 protein test among mentally retarded males

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Molecular evidence that fragile X syndrome occurs in the South African black population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

DNA analysis of the fragile X syndrome in an at risk pediatric population in croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies

6 July 2018

1 reference

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Examination of factors associated with instability of the FMR1 CGG repeat.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Prevalence of fragile‐X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies

6 July 2018

1 reference

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FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

6 July 2018

1 reference

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Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.

6 July 2018

1 reference

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Applicability of a checklist for clinical screening of the fragile X syndrome

6 July 2018

1 reference

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

6 July 2018

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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

6 July 2018

1 reference

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Cost effectiveness of DNA diagnosis for four monogenic diseases

6 July 2018

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Screening for Fragile X Syndrome: Information Needs for Health Planners

6 July 2018

1 reference

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Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

6 July 2018

1 reference

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The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

6 July 2018

1 reference

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Fragile X syndrome is less common than previously estimated

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Familial transmission of the FMR1 CGG repeat.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Tissue-specific methylation differences and cognitive function in fragile X premutation females

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

FMRP is associated to the ribosomes via RNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Mental status of females with an FMR1 gene full mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

FMR1 in global populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Population studies of the fragile X: a molecular approach

6 July 2018

1 reference

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A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Frequency and stability of the fragile X premutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

DNA testing for fragile X syndrome in schools for learning difficulties

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Effects of child age and level of developmental delay on family practice physicians' diagnostic impressions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

The frequency of the fragile X chromosome among schoolchildren in Coventry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Variable expression of the fragile X syndrome in heterozygous females of normal intelligence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

DNA methylation represses FMR-1 transcription in fragile X syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Characterization of the full fragile X syndrome mutation in fetal gametes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Absence of fragile X syndrome in Nova Scotia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Molecular fragile X screening in normal populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Early developmental trajectories of males with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Autistic behavior in young boys with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Transmitting males and carrier females in fragile X--revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Rapid antibody test for fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Screening for the fragile X syndrome among mentally retarded males by hair root analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Outcome of the routine assessment of patients with mental retardation in a genetics clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Problems in the diagnosis of fragile X syndrome in young children are still present

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Family experiences and factors associated with the diagnosis of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Prenatal diagnosis and carrier screening for fragile X by PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

A five-year experience with fragile X screening of high-risk gravid women

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Efficacy of cascade testing for fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200109000-00006

Prevalence of the fragile X syndrome in African-Americans

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

DNA testing for fragile X syndrome in 255 males from special schools in Singapore.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Molecular screening for fragile X syndrome among Indonesian children with developmental disability

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Stability of the FMR1 CGG repeat in a Basque sample.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Phenotypic involvement in females with the FMR1 gene mutation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

The prevalence of Fragile-X syndrome in an institution for people with learning disability

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4493892

FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

27 October 2018

1 reference

12 December 2020

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

1 reference

12 December 2020

Fragile X syndrome. Clinical analysis of 300 Chilean patients with unspecific mental retardation

1 reference

12 December 2020

Informed choice in fragile X syndrome and its effects on prevalence

1 reference

12 December 2020

Fine structure of the human FMR1 gene

1 reference

12 December 2020

Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India

1 reference

12 December 2020

Fragile X syndrome: diagnostic and carrier testing. Working Group of the Genetic Screening Subcommittee of the Clinical Practice Committee. American College of Medical Genetics

1 reference

12 December 2020

Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population

1 reference

12 December 2020

Prevalence of fragile X syndrome

1 reference

12 December 2020

Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

1 reference

12 December 2020

Fragile X syndrome occurs in the South African black population

1 reference

12 December 2020

Preventive screening for the fragile X syndrome

1 reference

12 December 2020

Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals

1 reference

12 December 2020

Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico

1 reference

12 December 2020

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

1 reference

12 December 2020

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families

1 reference

12 December 2020

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

1 reference

12 December 2020

Fragile X full mutations are more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics

1 reference

12 December 2020

Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis

1 reference

12 December 2020

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots

1 reference

12 December 2020

A survey of fragile X syndrome in a sample from Spanish Basque country

1 reference

12 December 2020

The FMR1 and FMR2 Mutations Are Not Common Etiologies of Academic Difficulty Among School-Age Children

1 reference

12 December 2020

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR

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

Serving the family from birth to the medical home. A report from the Newborn Screening Task Force convened in Washington DC, May 10-11, 1999

1 reference

12 December 2020

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

1 reference

12 December 2020

Screening for fragile X syndrome in women of reproductive age

1 reference

12 December 2020

Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes

1 reference

12 December 2020

10.1097/00125817-200109000-00006

Identifiers

DOI

1 reference

PubMed publication ID

11545690

Dimensions Publication ID

1 August 2017

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11545690%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

11545690

1 reference