Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions inFMR1
Author:
Affiliation:
1. Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
2. Celera Corporation, Alameda, California.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical),General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0134
Reference11 articles.
1. Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data
2. 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
3. Commentary on population screening for fragile X syndrome
4. A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome
5. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
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2. Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers;Frontiers in Genetics;2018-12-13
3. A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors;Journal of Genetic Counseling;2016-10-07
4. Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably highFMR1premutation prevalence in the Balearic Islands;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2016-06-22
5. Developmental Delay: Gene Testing;Molecular Pathology in Clinical Practice;2016
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