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Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.


Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Nahhas FA, Monroe TJ, Prior TW, Botma PI, Fang J, Snyder PJ, Talbott SL, Feldman GL.

Genet Test Mol Biomarkers. 2012 Mar;16(3):187-92. doi: 10.1089/gtmb.2011.0128. Epub 2011 Oct 12.


A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ.

J Mol Diagn. 2008 Jan;10(1):43-9. doi: 10.2353/jmoldx.2008.070073. Epub 2007 Dec 28.


Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.


FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. Epub 2007 Dec 5.


CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

Ludwig AL, Espinal GM, Pretto DI, Jamal AL, Arque G, Tassone F, Berman RF, Hagerman PJ.

Hum Mol Genet. 2014 Jun 15;23(12):3228-38. doi: 10.1093/hmg/ddu032. Epub 2014 Jan 23.


CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.

Zhou Y, Kumari D, Sciascia N, Usdin K.

Mol Autism. 2016 Oct 6;7:42. eCollection 2016.


A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

Lyon E, Laver T, Yu P, Jama M, Young K, Zoccoli M, Marlowe N.

J Mol Diagn. 2010 Jul;12(4):505-11. doi: 10.2353/jmoldx.2010.090229. Epub 2010 Apr 29.


Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.

Pastori C, Peschansky VJ, Barbouth D, Mehta A, Silva JP, Wahlestedt C.

Hum Genet. 2014 Jan;133(1):59-67. doi: 10.1007/s00439-013-1356-6. Epub 2013 Sep 5.


Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.

Hwang YT, Aliaga SM, Arpone M, Francis D, Li X, Chong B, Slater HR, Rogers C, Bretherton L, Hunter M, Heard R, Godler DE.

Am J Med Genet A. 2016 Dec;170(12):3327-3332. doi: 10.1002/ajmg.a.37954. Epub 2016 Oct 1.


Molecular analysis of fragile X syndrome.

Basehore MJ, Friez MJ.

Curr Protoc Hum Genet. 2014 Jan 21;80:Unit 9.5.. doi: 10.1002/0471142905.hg0905s80.


FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.

SĂžlvsten C, Nielsen AL.

Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.


High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F.

Am J Med Genet A. 2015 Sep;167A(9):2154-61. doi: 10.1002/ajmg.a.37125. Epub 2015 Apr 29.


Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.

Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ.

Genome Res. 2013 Jan;23(1):121-8. doi: 10.1101/gr.141705.112. Epub 2012 Oct 11.


Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

Basehore MJ, Marlowe NM, Jones JR, Behlendorf DE, Laver TA, Friez MJ.

Genet Test Mol Biomarkers. 2012 Jun;16(6):465-70. doi: 10.1089/gtmb.2011.0134. Epub 2012 Jan 6.


Maternal FMR1 premutation allele expansion and contraction in fraternal twins.

Alfaro MP, Cohen M, Vnencak-Jones CL.

Am J Med Genet A. 2013 Oct;161A(10):2620-5. doi: 10.1002/ajmg.a.36123. Epub 2013 Aug 15.


Molecular analysis of Fragile X syndrome.

Basehore MJ, Friez MJ.

Curr Protoc Hum Genet. 2009 Oct;Chapter 9:Unit 9.5. doi: 10.1002/0471142905.hg0905s63.


Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.

Rajan-Babu IS, Law HY, Yoon CS, Lee CG, Chong SS.

Expert Rev Mol Med. 2015 May 4;17:e7. doi: 10.1017/erm.2015.5. Review.


Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.

Indhumathi N, Singh D, Chong SS, Thelma BK, Arabandi R, Srisailpathy CR.

Genet Test Mol Biomarkers. 2012 Feb;16(2):113-22. doi: 10.1089/gtmb.2011.0102. Epub 2011 Oct 24.

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