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Page 1
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
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
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.
Pandelache A, Francis D, Oertel R, Dickson R, Sachdev R, Ling L, Gamage D, Godler DE.
Pandelache A, et al.
Genes (Basel). 2021 May 24;12(6):798. doi: 10.3390/genes12060798.
Genes (Basel). 2021.
PMID: 34073864
Free PMC article.
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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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