Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.
about
Fragile X syndrome: the FMR1 CGG repeat distribution among world populationsFragile X spectrum disordersTreatments for fragile X syndrome: a closer look at the data.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Advances in research on the fragile X syndrome.Examination of FMR1 transcript and protein levels among 74 premutation carriers.Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Genetic components of perinatal morbidity and mortality.FMR1 and the fragile X syndrome: human genome epidemiology reviewA developmental approach to understanding Fragile X syndrome in females.Fragile X syndrome: diagnostic and carrier testing.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesIntermediate FMR1 alleles and cognitive and/or behavioural phenotypes.Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile X mental retardation protein and GABAA receptor beta 3 in adults with autismFRAXA and FRAXE: the results of a five year survey.Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome.Examining the neural correlates of emergent equivalence relations in fragile X syndrome.Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles.Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.Savings and extinction of conditioned eyeblink responses in fragile X syndrome.Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome.Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.The neural basis of auditory temporal discrimination in girls with fragile X syndrome.Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.FMR1 CGG expansions: prevalence and sex ratios.White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging.Defining the role of the CGGBP1 protein in FMR1 gene expression.Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.Assessing executive dysfunction in girls with fragile X or Turner syndrome using the Contingency Naming Test (CNT).FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiQualitative 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.Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.Prevalence of the fragile X syndrome in African-Americans.A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
P2860
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P2860
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Prevalence and phenotype conse ...... al education-needs population.
@ast
Prevalence and phenotype conse ...... al education-needs population.
@en
Prevalence and phenotype conse ...... al education-needs population.
@nl
type
label
Prevalence and phenotype conse ...... al education-needs population.
@ast
Prevalence and phenotype conse ...... al education-needs population.
@en
Prevalence and phenotype conse ...... al education-needs population.
@nl
prefLabel
Prevalence and phenotype conse ...... al education-needs population.
@ast
Prevalence and phenotype conse ...... al education-needs population.
@en
Prevalence and phenotype conse ...... al education-needs population.
@nl
P2093
P2860
P356
P1476
Prevalence and phenotype conse ...... al education-needs population.
@en
P2093
D C Crawford
D L Pettay
E F Hinkle
J L Newman
K L Meadows
M L Stanfield
M Yeargin-Allsopp
P2860
P304
P356
10.1086/302260
P407
P577
1999-02-01T00:00:00Z