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Items: 1 to 20 of 107

1.

Fragile X syndrome.

Garber KB, Visootsak J, Warren ST.

Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Review.

2.

Clinical, molecular, and pharmacological aspects of FMR1 related disorders.

Pugin A, Faundes V, Santa María L, Curotto B, Aliaga S, Salas I, Soto P, Bravo P, Peña MI, Alliende MA.

Neurologia. 2017 May;32(4):241-252. doi: 10.1016/j.nrl.2014.10.009. Epub 2014 Dec 17. Review. English, Spanish.

3.

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.

4.

Molecular mechanisms of fragile X syndrome: a twenty-year perspective.

Santoro MR, Bray SM, Warren ST.

Annu Rev Pathol. 2012;7:219-45. doi: 10.1146/annurev-pathol-011811-132457. Epub 2011 Oct 10. Review.

PMID:
22017584
5.

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.

6.

microRNAs and Fragile X Syndrome.

Lin SL.

Adv Exp Med Biol. 2015;888:107-21. doi: 10.1007/978-3-319-22671-2_7.

PMID:
26663181
7.

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

Sølvsten C, Nielsen AL.

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

PMID:
21767618
8.

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.

9.

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Fatima T, Zaidi SA, Sarfraz N, Perween S, Khurshid F, Imtiaz F.

Am J Med Genet A. 2014 May;164A(5):1151-61. doi: 10.1002/ajmg.a.36423. Epub 2014 Jan 29.

PMID:
24478267
10.

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.

11.

A decade of molecular studies of fragile X syndrome.

O'Donnell WT, Warren ST.

Annu Rev Neurosci. 2002;25:315-38. Epub 2002 Mar 20. Review.

PMID:
12052912
12.

A mouse model of the human Fragile X syndrome I304N mutation.

Zang JB, Nosyreva ED, Spencer CM, Volk LJ, Musunuru K, Zhong R, Stone EF, Yuva-Paylor LA, Huber KM, Paylor R, Darnell JC, Darnell RB.

PLoS Genet. 2009 Dec;5(12):e1000758. doi: 10.1371/journal.pgen.1000758. Epub 2009 Dec 11.

13.

From FMRP function to potential therapies for fragile X syndrome.

Sethna F, Moon C, Wang H.

Neurochem Res. 2014 Jun;39(6):1016-31. doi: 10.1007/s11064-013-1229-3. Epub 2013 Dec 18. Review.

14.

[Chromatin changes caused by CGG repeat expansion in fmr1 gene].

Yudkin DV, Lemskaya NA, Grischenko IV, Dolskiy AA.

Mol Biol (Mosk). 2015 Mar-Apr;49(2):205-11. Review. Russian.

15.

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.

16.

Fragile X syndrome: From protein function to therapy.

Bagni C, Oostra BA.

Am J Med Genet A. 2013 Nov;161A(11):2809-21. doi: 10.1002/ajmg.a.36241. Epub 2013 Sep 24. Review.

PMID:
24115651
17.

Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis.

De Rubeis S, Fernández E, Buzzi A, Di Marino D, Bagni C.

Adv Exp Med Biol. 2012;970:517-51. doi: 10.1007/978-3-7091-0932-8_23. Review.

PMID:
22351071
18.

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G.

Mol Cell Probes. 2014 Oct-Dec;28(5-6):279-83. doi: 10.1016/j.mcp.2014.08.003. Epub 2014 Aug 27.

PMID:
25171808
19.

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function.

Bassell GJ, Warren ST.

Neuron. 2008 Oct 23;60(2):201-14. doi: 10.1016/j.neuron.2008.10.004. Review.

20.

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