A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome
Top Cited Papers
- 1 March 2010
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 56 (3) , 399-408
- https://doi.org/10.1373/clinchem.2009.136101
Abstract
Background: Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5′ untranslated region of the FKeywords
Funding Information
- National Fragile X Foundation
- NIH
This publication has 28 references indexed in Scilit:
- An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot AnalysisThe Journal of Molecular Diagnostics, 2010
- Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two GenerationsThe Journal of Molecular Diagnostics, 2009
- Response to letter by Chodirker and ChudleyGenetics in Medicine, 2008
- SIRT1 Inhibition Alleviates Gene Silencing in Fragile X Mental Retardation SyndromePLoS Genetics, 2008
- Consensus Characterization of 16 FMR1 Reference Materials: A Consortium StudyThe Journal of Molecular Diagnostics, 2008
- A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk PopulationsThe Journal of Molecular Diagnostics, 2008
- Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratoryGenetics in Medicine, 2007
- Robust amplification and ethidium‐visible detection of the fragile X syndrome CGG repeat using Pfu polymeraseAmerican Journal of Medical Genetics, 1994
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991