Noninvasive test for fragile X syndrome, using hair root analysis. - Wikidata - wikimedia - TriplyDB

Noninvasive test for fragile X syndrome, using hair root analysis.

Noninvasive test for fragile X syndrome, using hair root analysis.

http://www.wikidata.org/entity/Q34390773

about

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses.Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets Modeling fragile X syndrome in the Fmr1 knockout mouse FMR1 gene and fragile X syndrome.FMRP detection assay for the diagnosis of the fragile X syndrome.FMR1 and the fragile X syndrome: human genome epidemiology review Longitudinal changes in intellectual development in children with Fragile X syndrome.Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.A quantitative ELISA assay for the fragile x mental retardation 1 protein.A quantitative homogeneous assay for fragile X mental retardation 1 protein.Recent advances in assays for the fragile X-related disorders.Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome.Molecular diagnosis of Fragile X syndrome.Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.Comparison of FMR1-protein expression in lymphocytes, methylation pattern in Southern blot analysis, and IQ values in three sisters with the fragile X syndrome.Screening for the fragile X syndrome among mentally retarded males by hair root analysis.Verminderde vergrijzing en M. Korsakov; toeval of een voorbeeld van serendiptisme?

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Noninvasive test for fragile X syndrome, using hair root analysis.

http://www.wikidata.org/entity/Q34390773

description

1999 nî lūn-bûn

@nan

1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

1999年の論文

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1999年論文

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1999年論文

@zh-hant

1999年論文

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1999年論文

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1999年論文

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1999年论文

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name

Noninvasive test for fragile X syndrome, using hair root analysis.

@ast

Noninvasive test for fragile X syndrome, using hair root analysis.

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Noninvasive test for fragile X syndrome, using hair root analysis.

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type

label

Noninvasive test for fragile X syndrome, using hair root analysis.

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Noninvasive test for fragile X syndrome, using hair root analysis.

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Noninvasive test for fragile X syndrome, using hair root analysis.

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prefLabel

Noninvasive test for fragile X syndrome, using hair root analysis.

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Noninvasive test for fragile X syndrome, using hair root analysis.

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Noninvasive test for fragile X syndrome, using hair root analysis.

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American Journal of Human Genetics

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Noninvasive test for fragile X syndrome, using hair root analysis.

@en

P2093

A Smits

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B A Oostra

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B Anar

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B B de Vries

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E van Looveren

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H Galjaard

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R Willemsen

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Y De Diego Otero

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P2860

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

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

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

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

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

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

Mental status of females with an FMR1 gene full mutation

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

Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection.

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10.1086/302462

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