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CGG repeat in the FMR1 gene: size matters.

Willemsen R, Levenga J, Oostra BA.

Clin Genet. 2011 Sep;80(3):214-25. doi: 10.1111/j.1399-0004.2011.01723.x. Epub 2011 Jun 30. Review.


The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Willemsen R, Oostra BA.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):782-98. doi: 10.1002/ajmg.b.30910. Review.


Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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


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.


Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.


Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation.

Berman RF, Murray KD, Arque G, Hunsaker MR, Wenzel HJ.

Epilepsia. 2012 Jun;53 Suppl 1:150-60. doi: 10.1111/j.1528-1167.2012.03486.x.


EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Biancalana V, Glaeser D, McQuaid S, Steinbach P.

Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17.


Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Severijnen E, de Jong FH, Hessl D, Hagerman RJ, Oostra BA, Willemsen R.

Psychoneuroendocrinology. 2008 Jul;33(6):863-73. doi: 10.1016/j.psyneuen.2008.03.011. Epub 2008 May 12.


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.


FMR1: a gene with three faces.

Oostra BA, Willemsen R.

Biochim Biophys Acta. 2009 Jun;1790(6):467-77. doi: 10.1016/j.bbagen.2009.02.007. Epub 2009 Feb 21. Review.


Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, Loring JF, Haggarty SJ.

PLoS One. 2011;6(10):e26203. doi: 10.1371/journal.pone.0026203. Epub 2011 Oct 12.


Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A.

Clin Genet. 2012 Jul;82(1):88-92. doi: 10.1111/j.1399-0004.2011.01675.x. Epub 2011 Apr 28.


CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R.

J Neurochem. 2008 Dec;107(6):1671-82. doi: 10.1111/j.1471-4159.2008.05747.x. Epub 2008 Nov 10.


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.


FMR1 and the continuum of primary ovarian insufficiency.

Sullivan SD, Welt C, Sherman S.

Semin Reprod Med. 2011 Jul;29(4):299-307. doi: 10.1055/s-0031-1280915. Epub 2011 Oct 3. Review.


Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.

Kim SY, Hashimoto R, Tassone F, Simon TJ, Rivera SM.

J Psychiatr Res. 2013 Dec;47(12):1909-16. doi: 10.1016/j.jpsychires.2013.08.014. Epub 2013 Sep 2.


Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.

Qin M, Huang T, Liu Z, Kader M, Burlin T, Xia Z, Zeidler Z, Hukema RK, Smith CB.

ASN Neuro. 2014 Sep 23;6(5). pii: 1759091414551957. doi: 10.1177/1759091414551957. Print 2014.


The Fragile X premutation: new insights and clinical consequences.

Van Esch H.

Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. Epub 2005 Dec 5. Review.


Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.

Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min KT, Taylor JP, Paulson HL.

PLoS Genet. 2010 Dec 9;6(12):e1001240. doi: 10.1371/journal.pgen.1001240.

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