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Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.

Lu C, Lin L, Tan H, Wu H, Sherman SL, Gao F, Jin P, Chen D.

Hum Mol Genet. 2012 Dec 1;21(23):5039-47. doi: 10.1093/hmg/dds348. Epub 2012 Aug 21.


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. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3.


FMR1 and the continuum of primary ovarian insufficiency.

Sullivan SD, Welt C, Sherman S.

Semin Reprod Med. 2011 Jul;29(4):299-307. doi: 10.1055/s-0031-1280915. Epub 2011 Oct 3. Review.


The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.

Voorhuis M, Onland-Moret NC, Janse F, Ploos van Amstel HK, Goverde AJ, Lambalk CB, Laven JS, van der Schouw YT, Broekmans FJ, Fauser BC; Dutch Primary Ovarian Insufficiency Consortium.

Hum Reprod. 2014 Jul;29(7):1585-93. doi: 10.1093/humrep/deu095. Epub 2014 May 7.


Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.


Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Milà M.

Gene. 2015 Oct 15;571(1):52-7. doi: 10.1016/j.gene.2015.06.039. Epub 2015 Jun 18.


Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.

Karimov CB, Moragianni VA, Cronister A, Srouji S, Petrozza J, Racowsky C, Ginsburg E, Thornton KL, Welt CK.

Hum Reprod. 2011 Aug;26(8):2077-83. doi: 10.1093/humrep/der168. Epub 2011 Jun 6.


Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.

Hoyos LR, Thakur M.

J Assist Reprod Genet. 2017 Mar;34(3):315-323. doi: 10.1007/s10815-016-0854-6. Epub 2016 Dec 19. Review.


The FMR1 premutation and reproduction.

Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM.

Fertil Steril. 2007 Mar;87(3):456-65. Epub 2006 Oct 30. Review.


Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.

Mailick MR, Hong J, Greenberg J, Smith L, Sherman S.

Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):705-11. doi: 10.1002/ajmg.b.32277. Epub 2014 Oct 25.


Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.

Hunter JE, Epstein MP, Tinker SW, Charen KH, Sherman SL.

Genet Epidemiol. 2008 Sep;32(6):553-9. doi: 10.1002/gepi.20329.


EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Biancalana V, Glaeser D, McQuaid S, Steinbach P.

Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17.


Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.

De Geyter C, M'Rabet N, De Geyter J, Zürcher S, Moffat R, Bösch N, Zhang H, Heinimann K.

Genet Med. 2014 May;16(5):374-8. doi: 10.1038/gim.2013.146. Epub 2013 Oct 10.


Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.

Hoffman GE, Le WW, Entezam A, Otsuka N, Tong ZB, Nelson L, Flaws JA, McDonald JH, Jafar S, Usdin K.

J Histochem Cytochem. 2012 Jun;60(6):439-56. doi: 10.1369/0022155412441002. Epub 2012 Apr 2.


CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules.

Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH.

PLoS One. 2016 Dec 22;11(12):e0168204. doi: 10.1371/journal.pone.0168204. eCollection 2016.


Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.

Rohr J, Allen EG, Charen K, Giles J, He W, Dominguez C, Sherman SL.

Hum Reprod. 2008 May;23(5):1220-5. doi: 10.1093/humrep/den050. Epub 2008 Mar 1.


Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K.

Gene. 2007 Jun 15;395(1-2):125-34. Epub 2007 Mar 16.


Maternal FMR1 premutation allele expansion and contraction in fraternal twins.

Alfaro MP, Cohen M, Vnencak-Jones CL.

Am J Med Genet A. 2013 Oct;161A(10):2620-5. doi: 10.1002/ajmg.a.36123. Epub 2013 Aug 15.


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