Search Results - "Pandelache, Alison"

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 by Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.

“…We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The…”
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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations by Bartlett, Essra, Archibald, Alison D., Francis, David, Ling, Ling, Thomas, Rob, Chandler, Gabrielle, Ward, Lisa, O'Farrell, Gemma, Pandelache, Alison, Delatycki, Martin B., Bennetts, Bruce H., Ho, Gladys, Fisk, Katrina, Baker, Emma K., Amor, David J., Godler, David E.

“…The FMR1 premutation (PM:55‐199 CGG) is associated with fragile X‐associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of…”
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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 by Pandelache, Alison, Baker, Emma K, Aliaga, Solange M, Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E

“…This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full…”
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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 by Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations by Bartlett, Essra, Archibald, Alison D, Francis, David, Ling, Ling, Thomas, Rob, Chandler, Gabrielle, Ward, Lisa, O'Farrell, Gemma, Pandelache, Alison, Delatycki, Martin B, Bennetts, Bruce H, Ho, Gladys, Fisk, Katrina, Baker, Emma K, Amor, David J, Godler, David E

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