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Associated features in females with an FMR1 premutation.
Wheeler AC, Bailey DB Jr, Berry-Kravis E, Greenberg J, Losh M, Mailick M, Milà M, Olichney JM, Rodriguez-Revenga L, Sherman S, Smith L, Summers S, Yang JC, Hagerman R. Wheeler AC, et al. J Neurodev Disord. 2014;6(1):30. doi: 10.1186/1866-1955-6-30. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25097672 Free PMC article. Review.
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK. Buijsen RA, et al. Among authors: sherman sl. Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3. Hum Reprod. 2016. PMID: 26537920 Free PMC article.
430 results