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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.
Genes (Basel). 2021 May 24;12(6):798. doi: 10.3390/genes12060798.
Genes (Basel). 2021.
PMID: 34073864
Free PMC article.
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.
Pandelache A, et al.
Genes (Basel). 2019 Apr 5;10(4):279. doi: 10.3390/genes10040279.
Genes (Basel). 2019.
PMID: 30959842
Free PMC article.
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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Bartlett E, Archibald AD, Francis D, Ling L, Thomas R, Chandler G, Ward L, O'Farrell G, Pandelache A, Delatycki MB, Bennetts BH, Ho G, Fisk K, Baker EK, Amor DJ, Godler DE.
Bartlett E, et al. Among authors: pandelache a.
Am J Med Genet A. 2022 Jan;188(1):304-309. doi: 10.1002/ajmg.a.62500. Epub 2021 Sep 21.
Am J Med Genet A. 2022.
PMID: 34545686
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