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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Tassone F, et al. Cells. 2023 Sep 21;12(18):2330. doi: 10.3390/cells12182330. Cells. 2023. PMID: 37759552 Free PMC article. Review.
Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. ...
Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficienc …
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee. Spector E, et al. Genet Med. 2021 May;23(5):799-812. doi: 10.1038/s41436-021-01115-y. Epub 2021 Apr 1. Genet Med. 2021. PMID: 33795824 Free article.
Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). This document provides updated inform …
Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome (FXTAS), and fra …
FMR1 Premutation: Basic Mechanisms and Clinical Involvement.
Milà M, Rodriguez-Revenga L, Matilla-Dueñas A. Milà M, et al. Cerebellum. 2016 Oct;15(5):543-5. doi: 10.1007/s12311-016-0808-7. Cerebellum. 2016. PMID: 27338822
Several presentations addressed the impact of these mechanisms in FXTAS and FXPOI, two clinical presentations caused by the FMR1 premutation. Interestingly, a deterioration of the DNA repair machinery was first proposed as the pathogenicity cause of premutation alleles. Co …
Several presentations addressed the impact of these mechanisms in FXTAS and FXPOI, two clinical presentations caused by the FMR1 prem …
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).
Poteet B, Ali N, Bellcross C, Sherman SL, Espinel W, Hipp H, Allen EG. Poteet B, et al. J Assist Reprod Genet. 2023 Jan;40(1):179-190. doi: 10.1007/s10815-022-02671-1. Epub 2022 Nov 30. J Assist Reprod Genet. 2023. PMID: 36447079 Free PMC article.
An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in t …
An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated p …
FMRP ribonucleoprotein complexes and RNA homeostasis.
Suardi GAM, Haddad LA. Suardi GAM, et al. Adv Genet. 2020;105:95-136. doi: 10.1016/bs.adgen.2020.01.001. Epub 2020 Feb 6. Adv Genet. 2020. PMID: 32560791 Review.
FMR1 premutations may associate with at least two other clinical conditions, named fragile X-associated primary ovarian insufficiency (FXPOI) and tremor and ataxia syndrome (FXTAS). While FXPOI and FXTAS appear to be mediate …
FMR1 premutations may associate with at least two other clinical conditions, named fragile X-associated primary …
Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, Nolin SL, Glicksman A, Tortora N, McKinnon B, Shelly KE, Sherman SL. Allen EG, et al. Genet Med. 2021 Sep;23(9):1648-1655. doi: 10.1038/s41436-021-01177-y. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927378 Free PMC article.
PURPOSE: 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 re …
PURPOSE: Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovari …
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL. Hipp HS, et al. Menopause. 2016 Sep;23(9):993-9. doi: 10.1097/GME.0000000000000658. Menopause. 2016. PMID: 27552334 Free PMC article.
We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). METHODS: Semistructured interviews with 79 women with FXPOI …
We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisio …
Women's healthcare providers' knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI).
Singleton AL, Hipp HS, Ali N, Poteet B, Allen EG. Singleton AL, et al. J Assist Reprod Genet. 2025 Feb;42(2):499-508. doi: 10.1007/s10815-024-03337-w. Epub 2024 Dec 6. J Assist Reprod Genet. 2025. PMID: 39641836 Free PMC article.
PURPOSE: This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a …
PURPOSE: This study investigates the knowledge gaps about fragile X-associated primary ovarian insuffi …
Fragile X-associated disorders: Don't miss them.
Birch RC, Cohen J, Trollor JN. Birch RC, et al. Aust Fam Physician. 2017;46(7):487-491. Aust Fam Physician. 2017. PMID: 28697292 Free article.
Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. ...
Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insuffici …
Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.
Valor LM, Morales JC, Hervás-Corpión I, Marín R. Valor LM, et al. Int J Mol Sci. 2021 Aug 4;22(16):8368. doi: 10.3390/ijms22168368. Int J Mol Sci. 2021. PMID: 34445074 Free PMC article. Review.
In particular, the expansions of the CGG-repeats stretch at the 5'-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-associated syndromes: the neurodevelopmental Fragile X syndrome (FXS) in children, the late-onset …
In particular, the expansions of the CGG-repeats stretch at the 5'-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic ef …
64 results