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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, Grigsby J, Bourgeois JA, Finucane B, Jacquemont S, Brunberg JA, Zhang L, Lin J, Tassone F, Hagerman PJ, Hagerman RJ, Leehey MA. Berry-Kravis E, et al. Among authors: finucane b. Mov Disord. 2007 Oct 31;22(14):2018-30, quiz 2140. doi: 10.1002/mds.21493. Mov Disord. 2007. PMID: 17618523 Review.
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ. McConkie-Rosell A, et al. Among authors: finucane b. J Genet Couns. 2007 Oct;16(5):593-606. doi: 10.1007/s10897-007-9099-y. Epub 2007 May 12. J Genet Couns. 2007. PMID: 17497108
A review of fragile X premutation disorders: expanding the psychiatric perspective.
Bourgeois JA, Coffey SM, Rivera SM, Hessl D, Gane LW, Tassone F, Greco C, Finucane B, Nelson L, Berry-Kravis E, Grigsby J, Hagerman PJ, Hagerman RJ. Bourgeois JA, et al. Among authors: finucane b. J Clin Psychiatry. 2009 Jun;70(6):852-62. doi: 10.4088/JCP.08m04476. Epub 2009 May 5. J Clin Psychiatry. 2009. PMID: 19422761 Free PMC article. Review.
Clinicians' experiences with the fragile X clinical and research consortium.
Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. Liu JA, et al. Among authors: finucane b. Am J Med Genet A. 2016 Dec;170(12):3138-3143. doi: 10.1002/ajmg.a.37948. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604509
Newborn, carrier, and early childhood screening recommendations for fragile X.
Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Abrams L, et al. Among authors: finucane b. Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Pediatrics. 2012. PMID: 23129072 Review.
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. Yrigollen CM, et al. Among authors: finucane b. J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25110527 Free PMC article.
Direct DNA testing for fragile X syndrome.
Ramos FJ, Eunpu DL, Finucane B, Pfendner EG. Ramos FJ, et al. Among authors: finucane b. Am J Dis Child. 1993 Nov;147(11):1231-5. doi: 10.1001/archpedi.1993.02160350105016. Am J Dis Child. 1993. PMID: 7901988
143 results