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 Populations
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference35 articles.
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2. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders;Schaefer;Genet Med,2006
3. The FMR1 premutation and reproduction;Wittenberger;Fertil Steril,2007
4. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1;Jacquemont;Lancet Neurol,2007
5. The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families;Geva;Genet Test,2000
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1. Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation;Scientific Reports;2024-09-05
2. Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome;International Journal of Molecular Sciences;2024-07-25
3. Longitudinal follow-up of metformin treatment in Fragile X Syndrome;Frontiers in Psychology;2024-06-13
4. Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation;Frontiers in Neurology;2024-06-06
5. Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers;Journal of the Neurological Sciences;2024-06
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