Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome
Author:
Funder
NICHD
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference25 articles.
1. Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome;Chiurazzi;Am. J. Med. Genet.,1994
2. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature;Coffee;Am. J. Med. Genet. Part A,2008
3. Inherited aneuploidy: germline mosaicism;Delhanty;Cytogenet. Genome Res.,2011
4. Mosaicism for an FMR1 gene deletion in a fragile X female;Fan;Am. J. Med. Genet. Part A,2005
5. A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome;Filipovic-Sadic;Clin. Chem.,2010
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1. Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome;Genes;2024-03-13
2. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review;Genes;2022-09-08
3. De Novo Large Deletion Leading to Fragile X Syndrome;Frontiers in Genetics;2022-05-11
4. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22
5. Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing;Molecular Genetics & Genomic Medicine;2020-07-09
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