Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
about
Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisalCost effectiveness of DNA diagnosis for four monogenic diseases.Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.FMRP detection assay for the diagnosis of the fragile X syndrome.Noninvasive test for fragile X syndrome, using hair root analysis.Molecular genetics of X-linked mental retardation: a complex picture emerging.Diagnostic tests for fragile X syndrome.Fruit flies and intellectual disability.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupInstability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 geneAberrant brain activation during gaze processing in boys with fragile X syndrome.Mental status of females with an FMR1 gene full mutationPrediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseasesValidation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 geneEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersLongitudinal in vivo developmental changes of metabolites in the hippocampus of Fmr1 knockout miceFragile X syndrome in humans and mice.Screening for fragile X syndrome: information needs for health planners.Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain.The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.Screening for the fragile X syndrome among mentally retarded males by hair root analysis.
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P2860
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@ast
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@en
type
label
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@ast
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@en
prefLabel
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@ast
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@en
P2093
P2860
P356
P1476
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation
@en
P2093
P2860
P304
P356
10.1136/JMG.30.5.410
P407
P577
1993-05-01T00:00:00Z