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Clinical and molecular implications of mosaicism in FMR1 full mutations.
Pretto D, Yrigollen CM, Tang HT, Williamson J, Espinal G, Iwahashi CK, Durbin-Johnson B, Hagerman RJ, Hagerman PJ, Tassone F. Pretto D, et al. Front Genet. 2014 Sep 17;5:318. doi: 10.3389/fgene.2014.00318. eCollection 2014. Front Genet. 2014. PMID: 25278957 Free PMC article.
Size and methylation mosaicism in males with Fragile X syndrome.
Jiraanont P, Kumar M, Tang HT, Espinal G, Hagerman PJ, Hagerman RJ, Chutabhakdikul N, Tassone F. Jiraanont P, et al. Expert Rev Mol Diagn. 2017 Nov;17(11):1023-1032. doi: 10.1080/14737159.2017.1377612. Expert Rev Mol Diagn. 2017. PMID: 28929824 Free PMC article.
Clinical and molecular correlates in fragile X premutation females.
Jiraanont P, Sweha SR, AlOlaby RR, Silva M, Tang HT, Durbin-Johnson B, Schneider A, Espinal GM, Hagerman PJ, Rivera SM, Hessl D, Hagerman RJ, Chutabhakdikul N, Tassone F. Jiraanont P, et al. Among authors: espinal gm. eNeurologicalSci. 2017 Jun;7:49-56. doi: 10.1016/j.ensci.2017.04.003. Epub 2017 Apr 11. eNeurologicalSci. 2017. PMID: 28971146 Free PMC article.
Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.
Holm KN, Herren AW, Taylor SL, Randol JL, Kim K, Espinal G, Martiínez-Cerdeño V, Pessah IN, Hagerman RJ, Hagerman PJ. Holm KN, et al. Front Mol Biosci. 2021 Jan 29;7:600840. doi: 10.3389/fmolb.2020.600840. eCollection 2020. Front Mol Biosci. 2021. PMID: 33585555 Free PMC article.
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
Hessl D, Rosselot H, Miller R, Espinal G, Famula J, Sherman SL, Todd PK, Cabal Herrera AM, Lipworth K, Cohen J, Hall DA, Leehey M, Grigsby J, Weber JD, Alusi S, Wheeler A, Raspa M, Hudson T, Sobrian SK. Hessl D, et al. J Med Genet. 2022 Dec;59(12):1165-1170. doi: 10.1136/jmedgenet-2022-108568. Epub 2022 Jun 14. J Med Genet. 2022. PMID: 35701103 Free PMC article.
18 results