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.
about
Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X geneFragile X syndromeThe role of AGG interruptions in fragile X repeat expansions: a twenty-year perspectiveMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersUps and Downs: Mechanisms of Repeat Instability in the Fragile X-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeThe role of AGG interruptions in the transcription of FMR1 premutation allelesFragile X syndrome: a review of clinical and molecular diagnoses.A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesAGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screeningClinical and molecular implications of mosaicism in FMR1 full mutations.Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.Fragile X protein in newborn dried blood spotsMolecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.Validation 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 disordersClinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Polymerase chain reaction optimization for amplification of Guanine-Cytosine rich templates using buccal cell DNAβ-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general populationA novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR.Symbolic sequence learning is associated with cognitive-affective profiles in female FMR1 premutation carriers.Finding FMR1 mosaicism in Fragile X syndrome.Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.
P2860
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P2860
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.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
An information-rich CGG repeat ...... ed for southern blot analysis.
@ast
An information-rich CGG repeat ...... ed for southern blot analysis.
@en
An information-rich CGG repeat ...... ed for southern blot analysis.
@nl
type
label
An information-rich CGG repeat ...... ed for southern blot analysis.
@ast
An information-rich CGG repeat ...... ed for southern blot analysis.
@en
An information-rich CGG repeat ...... ed for southern blot analysis.
@nl
prefLabel
An information-rich CGG repeat ...... ed for southern blot analysis.
@ast
An information-rich CGG repeat ...... ed for southern blot analysis.
@en
An information-rich CGG repeat ...... ed for southern blot analysis.
@nl
P2093
P2860
P1476
An information-rich CGG repeat ...... ed for southern blot analysis.
@en
P2093
Andrew Hadd
Edward Sekinger
Flora Tassone
Gary J Latham
Julie Krosting
Liangjing Chen
Paul J Hagerman
Ruiqin Pan
Sachin Sah
Stela Filipovic-Sadic
P2860
P304
P356
10.2353/JMOLDX.2010.090227
P577
2010-07-08T00:00:00Z