A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.
about
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeFragile X syndrome: a review of clinical and molecular diagnoses.FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesInterrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencingFMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.Development and validation of a multiplex-PCR assay for X-linked intellectual disability.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyFragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.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 disordersFragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.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 Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene.Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.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 insufficiFMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.Fragile X Syndrome with Congenital Diaphragmatic Hernia.Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands.Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Molecular analysis of fragile X syndrome.Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).
P2860
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P2860
A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին 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
A simple, high-throughput assa ...... and capillary electrophoresis.
@ast
A simple, high-throughput assa ...... and capillary electrophoresis.
@en
type
label
A simple, high-throughput assa ...... and capillary electrophoresis.
@ast
A simple, high-throughput assa ...... and capillary electrophoresis.
@en
prefLabel
A simple, high-throughput assa ...... and capillary electrophoresis.
@ast
A simple, high-throughput assa ...... and capillary electrophoresis.
@en
P2093
P2860
P1476
A simple, high-throughput assa ...... and capillary electrophoresis.
@en
P2093
Elaine Lyon
Keith Young
Michael Zoccoli
Mohamed Jama
Natalia Marlowe
Thomas Laver
P2860
P304
P356
10.2353/JMOLDX.2010.090229
P577
2010-04-29T00:00:00Z