about
The fragile-X premutation: a maturing perspective.Molecular and cognitive predictors of the continuum of autistic behaviours in fragile XDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersDetection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targetsReduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation.Modeling fragile X syndrome in the Fmr1 knockout mouseAging in individuals with the FMR1 mutation.Molecular and cellular genetics of fragile X syndrome.Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisalWhat do we mean by genetic testing?Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3 yearsFragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.Region-specific alterations in brain development in one- to three-year-old boys with fragile X syndrome.FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism.Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.FMRP detection assay for the diagnosis of the fragile X syndrome.FMR1 and the fragile X syndrome: human genome epidemiology reviewNoninvasive test for fragile X syndrome, using hair root analysis.Phonological awareness and reading in boys with fragile X syndromeClinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyScreening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupIncrease of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Trajectories of early brain volume development in fragile X syndrome and autism.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersEvidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autismA quantitative ELISA assay for the fragile x mental retardation 1 protein.A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome.The challenges of clinical trials in fragile X syndrome.Discourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence.Transcription of the FMR1 gene in individuals with fragile X syndrome.In vitro reactivation of the FMR1 gene involved in fragile X syndrome.Mental retardation: genetic findings, clinical implications and research agenda.A controlled study of longitudinal IQ changes in females and males with fragile X syndrome.Screening for fragile X syndrome: information needs for health planners.Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression.
P2860
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P2860
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
Rapid antibody test for fragile X syndrome.
@en
Rapid antibody test for fragile X syndrome.
@nl
type
label
Rapid antibody test for fragile X syndrome.
@en
Rapid antibody test for fragile X syndrome.
@nl
prefLabel
Rapid antibody test for fragile X syndrome.
@en
Rapid antibody test for fragile X syndrome.
@nl
P2093
P1433
P1476
Rapid antibody test for fragile X syndrome.
@en
P2093
A van den Ouweland
B de Vries
H Galjaard
J L Mandel
R Willemsen
S Mohkamsing
P304
P356
10.1016/S0140-6736(95)90979-6
P407
P50
P577
1995-05-01T00:00:00Z