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2. 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 Hum Reprod; 2016 Jan; 31(1):158-68. PubMed ID: 26537920 [TBL] [Abstract][Full Text] [Related]
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9. [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family]. González-Pérez J; Izquierdo-Álvarez S; Fuertes-Rodrigo C; Monge-Galindo L; Peña-Segura JL; López-Pisón FJ Med Clin (Barc); 2016 Apr; 146(7):311-5. PubMed ID: 26776484 [TBL] [Abstract][Full Text] [Related]
10. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Hall DA; Berry-Kravis E Handb Clin Neurol; 2018; 147():377-391. PubMed ID: 29325626 [TBL] [Abstract][Full Text] [Related]
11. Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). Peprah E Reprod Health; 2014 Aug; 11():67. PubMed ID: 25134882 [TBL] [Abstract][Full Text] [Related]
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14. Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene. Nobile V; Palumbo F; Lanni S; Ghisio V; Vitali A; Castagnola M; Marzano V; Maulucci G; De Angelis C; De Spirito M; Pacini L; D'Andrea L; Ragno R; Stazi G; Valente S; Mai A; Chiurazzi P; Genuardi M; Neri G; Tabolacci E Hum Genet; 2020 Feb; 139(2):227-245. PubMed ID: 31919630 [TBL] [Abstract][Full Text] [Related]
15. Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations. Schneider A; Winarni TI; Cabal-Herrera AM; Bacalman S; Gane L; Hagerman P; Tassone F; Hagerman R Transl Psychiatry; 2020 Jun; 10(1):205. PubMed ID: 32576818 [TBL] [Abstract][Full Text] [Related]
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19. FMR1: a gene with three faces. Oostra BA; Willemsen R Biochim Biophys Acta; 2009 Jun; 1790(6):467-77. PubMed ID: 19233246 [TBL] [Abstract][Full Text] [Related]