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View article: Assessing equity in Medicare-funded breast cancer genetic testing
Assessing equity in Medicare-funded breast cancer genetic testing Open
View article: Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations Open
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 expansion to a hypermethylated full mutation (FM: ≥ 200 CGG) that causes fragile X sy…
View article: Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program Open
Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation: FM). Typically, FM causes abnormal methylation of the FMR1 promoter and silencing of FMR1 , leading to reduction of FMRP, a protein essential for normal n…
View article: Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction
Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction Open
Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 g…