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Items: 16

1.

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.

Wöhrle D, Salat U, Hameister H, Vogel W, Steinbach P.

Am J Hum Genet. 2001 Sep;69(3):504-15. Epub 2001 Jul 13.

2.

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.

Mandel JL, Biancalana V.

Growth Horm IGF Res. 2004 Jun;14 Suppl A:S158-65. Review.

PMID:
15135801
3.

Single-cell analysis of unstable genes.

Daniels R, Holding C, Kontogianni E, Monk M.

J Assist Reprod Genet. 1996 Feb;13(2):163-9. Review.

PMID:
8688590
4.

The fragile X gene and its function.

Oostra BA, Chiurazzi P.

Clin Genet. 2001 Dec;60(6):399-408. Review.

PMID:
11846731
5.

The fragile X premutation: into the phenotypic fold.

Hagerman RJ, Hagerman PJ.

Curr Opin Genet Dev. 2002 Jun;12(3):278-83. Review.

PMID:
12076670
6.

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

de Vries BB, Jansen CC, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AM, Niermeijer MF, Oostra BA, Halley DJ.

J Med Genet. 1996 Dec;33(12):1007-10. Review.

7.

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.

PMID:
16473304
8.

A fragile balance: FMR1 expression levels.

Oostra BA, Willemsen R.

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R249-57. Epub 2003 Sep 2. Review.

PMID:
12952862
9.
10.

Molecular diagnosis and genetic counseling for fragile X mental retardation.

Pandey UB, Phadke SR, Mittal B.

Neurol India. 2004 Mar;52(1):36-42. Review.

11.

Fragile X syndrome.

Terracciano A, Chiurazzi P, Neri G.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. Review.

PMID:
16010677
12.
13.

Restoring the phenotype of fragile X syndrome: insight from the mouse model.

Gantois I, Bakker CE, Reyniers E, Willemsen R, D'Hooge R, De Deyn PP, Oostra BA, Kooy RF.

Curr Mol Med. 2001 Sep;1(4):447-55. Review.

PMID:
11899089
14.

Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy.

Tsiouris JA, Brown WT.

CNS Drugs. 2004;18(11):687-703. Review.

PMID:
15330685
15.

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.

Yanovsky-Dagan S, Mor-Shaked H, Eiges R.

World J Stem Cells. 2015 Jun 26;7(5):823-38. doi: 10.4252/wjsc.v7.i5.823. Review.

16.

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.

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