Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet. 2000;9:901–8.

Article  CAS  PubMed  Google Scholar 

Man L, Lekovich J, Rosenwaks Z, Gerhardt J. Fragile X-Associated diminished Ovarian Reserve and primary ovarian insufficiency from Molecular mechanisms to Clinical manifestations. Front Mol Neurosci [Internet]. 2017;10:1–17.

Article  CAS  Google Scholar 

Latham GJ, Coppinger J, Hadd AG, Nolin SL. The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective. Front Genet. 2014;5:1–6.

Article  CAS  Google Scholar 

Willemsen R, Levenga J, Oostra B. CGG repeat in the FMR1 gene: size matters. Clin Genet. 2011;80:214–25.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet - Semin Med Genet. 2000;97:189–94.

Article  CAS  Google Scholar 

Mailick MR, Hong J, Greenberg J, Smith L, Sherman S. Curvilinear Association of CGG Repeats and age at menopause in women with FMR1 premutation expansions. Am J Med Genet B Neuropsychiatr Genet. 2014;0:705–11.

Article  CAS  PubMed Central  Google Scholar 

Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet. 2006;14:253–5.

Article  CAS  PubMed  Google Scholar 

Tabolacci E, Nobile V, Pucci C, Chiurazzi P. Mechanisms of the FMR1 repeat instability: how does the CGG sequence expand? Int J Mol Sci. 2022;23:1–17.

Article  Google Scholar 

Manor E, Gonen R, Sarussi B, Keidar-Friedman D, Kumar J, Tang HT, et al. The role of AGG interruptions in the FMR1 gene stability: a survey in ethnic groups with low and high rate of consanguinity. Mol Genet Genomic Med. 2019;7:1–14.

Article  Google Scholar 

Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, et al. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genet Med. 2015;17:358–64.

Article  CAS  PubMed  Google Scholar 

Yrigollen CM, Durbin-Johnson B, Gane L, Nelson DL, Hagerman R, Hagerman PJ, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012;14:729–36.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Domniz N, Ries-Levavi L, Cohen Y, Marom-Haham L, Berkenstadt M, Pras E, et al. Absence of AGG interruptions is a risk factor for full mutation expansion among Israeli FMR1 Premutation Carriers. Front Genet. 2018;9:1–8.

Article  Google Scholar 

Napierala M, Michalowski D, de Mezer M, Krzyzosiak WJ. Facile FMR1 mRNA structure regulation by interruptions in CGG repeats. Nucleic Acids Res. 2005;33:451–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rodrigues B, Vale-Fernandes E, Maia N, Santos F, Marques I, Santos R, et al. Development and validation of a Mathematical Model to predict the complexity of FMR1 allele combinations. Front Genet. 2020;11:1–8.

Article  Google Scholar 

Villate O, Ibarluzea N, Maortua H, de la Hoz AB, Rodriguez-Revenga L, Izquierdo-Álvarez S, et al. Effect of AGG interruptions on FMR1 maternal transmissions. Front Mol Biosci. 2020;7:1–6.

Article  Google Scholar 

Allen EG, Glicksman A, Tortora N, Charen K, He W, Amin A, et al. FXPOI: pattern of AGG interruptions does not show an association with age at amenorrhea among women with a premutation. Front Genet. 2018;9:1–7.

Article  CAS  Google Scholar 

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014;6.

Zar JH. Bioestatistical Analysis fifth edition. 2010.

Team RC. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria. URL https://www.R-project.org/. 2023.

Wickham H. ggplot2: Elegant Graphics for Data Analysis. Springer-Verlag New York. 2016. https://ggplot2.tidyverse.org

Basuta K, Lozano R, Schneider A, Yrigollen CM, Hessl D, Randi J, Hagerman A, et al. A family with two female compound heterozygous for the FMR1 premutation alleles. Clin Genet. 2014;285:458–63.

Article  Google Scholar 

Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size. Genet Med. 2021;23:1648–55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, et al. Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res. 2014;3:153–61.

Article  PubMed  PubMed Central  Google Scholar 

Nolin SL, Glicksman A, Tortora N, Allen E, Macpherson J, Mila M, et al. Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles. Am J Med Genet Part A. 2019;179:1148–56.

Article  CAS  PubMed  Google Scholar 

Friedman-Gohas M, Kirshenbaum M, Michaeli A, Domniz N, Elizur S, Raanani H, et al. Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers? J Assist Reprod Genet. 2020;37:849–54.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bonett DG, Wright TA. Sample size requirements for estimating Pearson, Kendall and Spearman correlations. Psychometrika. 2000;65:23–8.

Article  Google Scholar 

Gleicher N, Yu Y, Himaya E, Barad DH, Weghofer A, Wu Y, et al. Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles. Transl Res. 2015;166:502–7.

Article  CAS  PubMed  Google Scholar 

Gleicher N, Weghofer A, Oktay K, Barad DH. Revelance of triple CGG repeats in the FMR1 gene to ovarian reserve. Acta Obstet Gynecol Scand. 2009;88:1024–30.

Article  CAS  PubMed  Google Scholar 

Maslow BSL, Davis S, Engmann L, Nulsen JC, Benadiva CA. Correlation of normal-range FMR1 repeat length or genotypes and reproductive parameters. J Assist Reprod Genet. 2016;33:1149–55.

Article  PubMed  PubMed Central  Google Scholar 

Wang Q, Kushnir VA, Darmon S, Barad DH, Wu Y, Zhang L, et al. Reduced RNA expression of the FMR1 gene in women with low (CGGn < 26) repeats. Fertil Steril. 2017;108:e143.

Article  Google Scholar 

Rehnitz J, Alcoba DD, Brum IS, Dietrich JE, Youness B, Hinderhofer K, et al. FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve. Reprod Biol Endocrinol. 2018;16:1–9.

Article  Google Scholar 

Lekovich J, Man L, Xu K, Canon C, Lilienthal D, Stewart JD, et al. CGG repeat length and AGG interruptions as indicators of fragile X–associated diminished ovarian reserve. Genet Med. 2018;20:957–64.

Article  CAS  PubMed  Google Scholar