The association between a carrier state of FMR1 premutation and numeric sex chromosome variations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10815-023-02730-1.pdf
Reference22 articles.
1. Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012;4(12):100. https://doi.org/10.1186/gm401.
2. American College of Obstetricians and Gynecologists. Committee opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41–55. https://doi.org/10.1097/AOG.0000000000001952.
3. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66(4):817–22. https://doi.org/10.1016/0092-8674(91)90125-i.
4. Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, et al. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet. 2000;91(2):144–52. https://doi.org/10.1002/(sici)1096-8628(20000313)91:2.
5. Elizur SE, Lebovitz O, Derech-Haim S, Dratviman-Storobinsky O, Feldman B, Dor J, et al. Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. PLoS One. 2014;9(8):e105121. https://doi.org/10.1371/journal.pone.0105121.
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