Results 111 to 120 of about 815 (125)
Human Reproduction, 2021 Abstract Study question Does repeat-associated non-AUG (RAN) translation lead to accumulation of polyglycine- containing protein (FMRpolyG) in human lymphocytes and mural granulosa cells of FMR1 premutation carriers?
K Hinderhofer, T Strowitzki
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Reproductive and Gynecologic Care of Women With Fragile X Primary Ovarian Insufficiency (FXPOI) [PDF]
Menopause, 2016 Abstract Objective: Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes,
Heather Hipp, Stephanie L Sherman
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Clinical Manifestation and Management of FXPOI
2016Fragile X-associated primary ovarian insufficiency (FXPOI) is among a family of disorders caused by the expansion of a CGG repeat sequence located in the 5′ untranslated region of the X-linked gene FMR1. About 20 % of women who carry a premutation have cessation of menses for at least 1 year prior to age 40, a 20-fold increased risk compared with the ...
Stephanie L Sherman
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Understanding Decreased Fertility in Women Carriers of the FMR1 Premutation: A Possible Mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) [PDF]
Reproductive Health, 2014 Fragile X syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The full mutation, defined as >200 cytosine-guanine-guanine (CGG) triplet repeats, causes FXS.
Emmanuel Peprah
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Chapter Four. A Classic Zebra: Fragile X– Associated Primary Ovarian Insufficiency (FXPOI)
2022exaly +2 more sources
Model Systems for Understanding FXPOI
2016Fragile X-associated primary ovarian insufficiency is a poorly understood cause of infertility and ovarian insufficiency. Studies to date in humans have been limited for the most part to studies of the epidemiology and natural history of the condition in women.
Stephanie L Sherman +2 more
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Modeling Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) via Ectopically Expressed CGG99 Repeats [PDF]
Fertility and Sterility, 2018 K.E. Shelly, N. Candelaria, D. Nelson
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