MaternalFMR1premutation allele expansion and contraction in fraternal twins
Author:
Affiliation:
1. Department of Pathology; Microbiology and Immunology; Nashville; Tennessee
2. Department of Pediatrics; Vanderbilt University School of Medicine; Nashville; Tennessee
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36123/fullpdf
Reference41 articles.
1. Reverse mutations in the fragile X syndrome;Brown;Am J Med Genet,1996
2. Length of uninterrupted CGG repeats determines instability in the FMR1 gene;Eichler;Nat Genet,1994
3. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome;Eichler;Hum Mol Genet,1996
4. Expansion of an FMR1 gray-zone allele to a full mutation in two generations;Fernandez-Carvajal;J Mol Diagn,2009
5. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox;Fu;Cell,1991
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1. Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families;Genes;2020-02-26
2. Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles;Genes;2019-04-05
3. Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction;Genes;2018-06-07
4. Genetics;Principles and Applications of Molecular Diagnostics;2018
5. FMR1gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X;Gynecological Endocrinology;2014-11-04
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