Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study (Q36132963)

12 August 2017

Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study (English)

1 reference

12 August 2017

0 references

Irva Hertz-Picciotto

6

0 references

author name string

Flora Tassone

1

1 reference

12 August 2017

Nimrah S Choudhary

2

1 reference

12 August 2017

Federica Tassone

3

1 reference

12 August 2017

Blythe Durbin-Johnson

4

1 reference

12 August 2017

Robin Hansen

5

1 reference

12 August 2017

Isaac Pessah

7

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 March 2013

1 reference

Journal of Autism and Developmental Disorders

12 August 2017

1 reference

12 August 2017

43

1 reference

12 August 2017

3

1 reference

12 August 2017

530-539

1 reference

https://scigraph.springernature.com/pub.10.1007/s10803-012-1580-2

12 August 2017

0 references

cites work

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring 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=4596818

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

The role of AGG interruptions in the transcription of FMR1 premutation alleles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

FMR1 gray-zone alleles: association with Parkinson's disease in women?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

The role of fragile X mental retardation protein in major mental disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

A review of fragile X premutation disorders: expanding the psychiatric perspective

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

The FMR1 premutation and reproduction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Transcription of the FMR1 gene in individuals with fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Premature ovarian failure in the fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Fragile X and autism: a multicenter survey.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Fragile X mental retardation protein levels are decreased in major psychiatric disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Autism profiles of males with fragile X syndrome

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Association of FMR1 repeat size with ovarian dysfunction

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Screening with the FMR1 protein test among mentally retarded males.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Prevalence of the fragile X anomaly amongst autistic twins and singletons.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Conversational analyses of males with fragile X, Down syndrome, and autism: comparison of the emergence of deviant language

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Fragile X genotype characterized by an unstable region of DNA.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Clinical features of boys with fragile X premutations and intermediate alleles.

2 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Early development, temperament, and functional impairment in autism and fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Social behavior profile in young males with fragile X syndrome: characteristics and specificity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Autistic behaviors among girls with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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/10.1007%2FS10803-012-1580-2

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/10.1007%2FS10803-012-1580-2

Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

Mood and anxiety disorders in females with the FMR1 premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-012-1580-2

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/10.1007%2FS10803-012-1580-2

Screening for fragile X syndrome: results from a school for mentally retarded children.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4596818

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

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22767137

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cytogenetic diagnosis using midtrimester fetal blood samples: application to suspected mosaicism and other diagnostic problems

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22767137

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10803-012-1580-2

1 reference

12 August 2017

1 reference

12 August 2017

1 reference