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Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders.

Zhao XN, Usdin K.

Genes (Basel). 2016 Sep 21;7(9). pii: E70. doi: 10.3390/genes7090070. Review.


Fragile X protein in newborn dried blood spots.

Adayev T, LaFauci G, Dobkin C, Caggana M, Wiley V, Field M, Wotton T, Kascsak R, Nolin SL, Glicksman A, Hosmer N, Brown WT.

BMC Med Genet. 2014 Oct 28;15:119. doi: 10.1186/s12881-014-0119-0.


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.


Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.

Gerhardt J, Zaninovic N, Zhan Q, Madireddy A, Nolin SL, Ersalesi N, Yan Z, Rosenwaks Z, Schildkraut CL.

J Cell Biol. 2014 Sep 1;206(5):599-607. doi: 10.1083/jcb.201404157.


The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.

Latham GJ, Coppinger J, Hadd AG, Nolin SL.

Front Genet. 2014 Jul 29;5:244. doi: 10.3389/fgene.2014.00244. eCollection 2014. Review.


Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.

Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN.

Front Genet. 2014 Jul 17;5:226. doi: 10.3389/fgene.2014.00226. eCollection 2014. Review.


The FMR1 gene, infertility, and reproductive decision-making: a review.

Pastore LM, Johnson J.

Front Genet. 2014 Jul 7;5:195. doi: 10.3389/fgene.2014.00195. eCollection 2014. Review.


A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.

Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, St├╝tzer A, Armache KJ, Simon MD, Xu C, Ali M, Murn J, Prisic S, Kutateladze TG, Vakoc CR, Min J, Kingston RE, Fischle W, Warren ST, Page DC, Shi Y.

Cell. 2014 May 8;157(4):869-81. doi: 10.1016/j.cell.2014.03.040.


The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.

Gerhardt J, Tomishima MJ, Zaninovic N, Colak D, Yan Z, Zhan Q, Rosenwaks Z, Jaffrey SR, Schildkraut CL.

Mol Cell. 2014 Jan 9;53(1):19-31. doi: 10.1016/j.molcel.2013.10.029. Epub 2013 Nov 27.


Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.

Pastore LM, Karns LB, Ventura K, Clark ML, Steeves RH, Callanan N.

J Genet Couns. 2014 Feb;23(1):97-107. doi: 10.1007/s10897-013-9616-0. Epub 2013 Jun 14.


Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.55. Epub 2011 May 4. No abstract available.


Mechanisms of trinucleotide repeat instability during human development.

McMurray CT.

Nat Rev Genet. 2010 Nov;11(11):786-99. doi: 10.1038/nrg2828. Review. Erratum in: Nat Rev Genet. 2010 Dec;11(12):886.


Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.

Hagerman R, Hoem G, Hagerman P.

Mol Autism. 2010 Sep 21;1(1):12. doi: 10.1186/2040-2392-1-12.


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.


Microsatellite repeat instability and neurological disease.

Brouwer JR, Willemsen R, Oostra BA.

Bioessays. 2009 Jan;31(1):71-83. doi: 10.1002/bies.080122. 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.


Comparative genomics and molecular dynamics of DNA repeats in eukaryotes.

Richard GF, Kerrest A, Dujon B.

Microbiol Mol Biol Rev. 2008 Dec;72(4):686-727. doi: 10.1128/MMBR.00011-08. Review.


Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline.

Dion V, Lin Y, Hubert L Jr, Waterland RA, Wilson JH.

Hum Mol Genet. 2008 May 1;17(9):1306-17. doi: 10.1093/hmg/ddn019. Epub 2008 Feb 5.


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.

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