Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference26 articles.
1. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome;Bell;Cell,1991
2. The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells;De Graaff;Am. J. Med. Genet.,1996
3. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients;Graaff;Hum. Mol. Genet.,1995
4. Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients;Grasso;Am. J. Med. Genet.,1999
5. Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression;Grønskov;Am. J. Hum. Genet.,1997
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1. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature;Clinica Chimica Acta;2024-01
2. De Novo Large Deletion Leading to Fragile X Syndrome;Frontiers in Genetics;2022-05-11
3. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22
4. Mechanisms of Genome Instability in the Fragile X-Related Disorders;Genes;2021-10-17
5. Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture;Frontiers in Genetics;2021-09-27
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