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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
FMR1
gene.
Bacalman S, Farzin F, Bourgeois JA, Cogswell J, Goodlin-Jones BL, Gane LW, Grigsby J, Leehey MA, Tassone F, Hagerman RJ. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry. 2006 Jan;67(1):87-94.
PubMed citation
Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005 Aug;117(4):376-82. Epub 2005 Jun 2.
PubMed citation
Entrez
Gene
Galloway JN, Nelson DL. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol. 2009 Nov 1;4(6):785.
PubMed citation
Garber K, Smith KT, Reines D, Warren ST. Transcription, translation and fragile X syndrome. Curr Opin Genet Dev. 2006 Jun;16(3):270-5. Epub 2006 May 2. Review.
PubMed citation
Gene Review: FMR1-Related
Disorders
Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. Nat Clin Pract Neurol. 2007 Feb;3(2):107-12.
PubMed citation
Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004 May;74(5):805-16. Epub 2004 Mar 29. Review. Erratum in: Am J Hum Genet. 2004 Aug;75(2):352.
PubMed citation
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet. 2004 May;74(5):1051-6. Epub 2004 Apr 2.
PubMed citation
Hagerman RJ. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J Dev Behav Pediatr. 2006 Feb;27(1):63-74. Review.
PubMed citation
Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM. Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry. 2011 Nov 1;70(9):859-65. doi: 10.1016/j.biopsych.2011.05.033. Epub 2011 Jul 23.
PubMed citation
Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct;122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23.
PubMed citation
Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007 Jan;6(1):45-55.
PubMed citation
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28;291(4):460-9.
PubMed citation
Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet. 2001 Jul 1;10(14):1449-54.
PubMed citation
Li Y, Jin P. RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res. 2012 Jun 26;1462:112-7. doi: 10.1016/j.brainres.2012.02.057. Epub 2012 Mar 9. Review.
PubMed citation
Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinnis M, Fenwick RG Jr, Sun W. Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med. 2007 Jan;9(1):46-51.
PubMed citation
Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA. 2007 Apr;13(4):555-62. Epub 2007 Feb 5.
PubMed citation
Terracciano A, Chiurazzi P, Neri G. Fragile X syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. Review.
PubMed citation
Willemsen R, Mientjes E, Oostra BA. FXTAS: a progressive neurologic syndrome associated with Fragile X premutation. Curr Neurol Neurosci Rep. 2005 Sep;5(5):405-10. Review.
PubMed citation
Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM. The FMR1 premutation and reproduction. Fertil Steril. 2007 Mar;87(3):456-65. Epub 2006 Oct 30. Review.
PubMed citation
Reviewed: August 2012
Published: May 20, 2013
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