Meeting Abstracts of the 1st Fragile X International Congress. [PDF]
Orphanet J Rare Diseuropepmc +1 more source
Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report. [PDF]
BMC NeurolZhong S +5 more
europepmc +1 more source
Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]
J Neurodev DisordHourani SM +4 more
europepmc +1 more source
Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of FMR1-Binding miR-323a-3p and the Modification of BMP/SMAD-Pathway Gene Expression in Human Granulosa Cells. [PDF]
Int J Mol SciVilkaite A +8 more
europepmc +1 more source
Healthcare Experiences of African American Women with the Fragile X Premutation. [PDF]
J Racial Ethn Health DisparitiesKing AP +6 more
europepmc +1 more source
Use of Model Systems to Understand the Etiology of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) [PDF]
Journal of Neurodevelopmental Disorders, 2014 Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of women who carry the premutation allele (55 to 200 unmethylated CGG repeats) develop hypergonadotropic hypogonadism and cease menstruating ...
Peng Jin +2 more
exaly +8 more sources
Refining the Risk for Fragile X–Associated Primary Ovarian Insufficiency (FXPOI) by FMR1 CGG Repeat Size [PDF]
Genetics in Medicine, 2021 Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk.To better understand the risk by repeat size, we collected self-reported reproductive histories on 1,
Heather Hipp +2 more
exaly +3 more sources