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Page 1
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: coffey sm. Mov Disord. 2007 Oct 31;22(14):2018-30, quiz 2140. doi: 10.1002/mds.21493. Mov Disord. 2007. PMID: 17618523 Review.
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome.
Hagerman RJ, Coffey SM, Maselli R, Soontarapornchai K, Brunberg JA, Leehey MA, Zhang L, Gane LW, Fenton-Farrell G, Tassone F, Hagerman PJ. Hagerman RJ, et al. Among authors: coffey sm. Am J Med Genet A. 2007 Oct 1;143A(19):2256-60. doi: 10.1002/ajmg.a.31920. Am J Med Genet A. 2007. PMID: 17726686
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: coffey sm. 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
Expanded clinical phenotype of women with the FMR1 premutation.
Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ. Coffey SM, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1009-16. doi: 10.1002/ajmg.a.32060. Am J Med Genet A. 2008. PMID: 18348275 Free PMC article.
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: coffey sm. 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.
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. Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Pediatrics. 2012. PMID: 23129072 Review.
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.
Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman R. Berry-Kravis E, et al. J Med Genet. 2009 Apr;46(4):266-71. doi: 10.1136/jmg.2008.063701. Epub 2009 Jan 6. J Med Genet. 2009. PMID: 19126569 Free PMC article. Clinical Trial.
FMR1 premutation in females diagnosed with multiple sclerosis.
Zhang L, Coffey S, Lua LL, Greco CM, Schafer JA, Brunberg J, Borodyanskaya M, Agius MA, Apperson M, Leehey M, Tartaglia N, Tassone F, Hagerman PJ, Hagerman RJ. Zhang L, et al. J Neurol Neurosurg Psychiatry. 2009 Jul;80(7):812-4. doi: 10.1136/jnnp.2008.160960. J Neurol Neurosurg Psychiatry. 2009. PMID: 19531693 No abstract available.
12 results