Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay
Open Access
- 1 April 2004
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (4) , e45
- https://doi.org/10.1136/jmg.2003.012716
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCRHuman Genetics, 2001
- A general method for the detection of large CAG repeat expansions by fluorescent PCR.Journal of Medical Genetics, 1996
- Robust amplification and ethidium‐visible detection of the fragile X syndrome CGG repeat using Pfu polymeraseAmerican Journal of Medical Genetics, 1994
- Counselling risk figures for fragile X carrier females of varying band sizes for use in predicting the likelihood of retardation in their offspringAmerican Journal of Medical Genetics, 1994
- High sensitivity mapping of methylated cytosinesNucleic Acids Research, 1994
- Cytogenetic guidelines for fragile X studies tested in routine practiceAmerican Journal of Medical Genetics, 1992
- Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.Journal of Medical Genetics, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) nScience, 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