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Items: 1 to 20 of 48

1.

RAN translation: fragile X in the running.

Reddy K, Pearson CE.

Neuron. 2013 May 8;78(3):405-8. doi: 10.1016/j.neuron.2013.04.034.

2.

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F.

PLoS One. 2011;6(7):e21728. doi: 10.1371/journal.pone.0021728. Epub 2011 Jul 19.

3.
4.

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

de Graaff E, Willemsen R, Zhong N, de Die-Smulders CE, Brown WT, Freling G, Oostra B.

Am J Hum Genet. 1995 Sep;57(3):609-18.

5.

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

García-Alegría E, Ibáñez B, Mínguez M, Poch M, Valiente A, Sanz-Parra A, Martinez-Bouzas C, Beristain E, Tejada MI.

RNA. 2007 May;13(5):756-62.

6.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA.

Hum Mol Genet. 1994 Apr;3(4):615-20.

PMID:
8069307
7.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K.

Am J Hum Genet. 1997 Oct;61(4):961-7.

8.

The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA.

Ofer N, Weisman-Shomer P, Shklover J, Fry M.

Nucleic Acids Res. 2009 May;37(8):2712-22. doi: 10.1093/nar/gkp130. Epub 2009 Mar 9.

9.

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
10.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

11.

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

Lachiewicz A, Dawson D, Spiridigliozzi G, Cuccaro M, Lachiewicz M, McConkie-Rosell A.

J Intellect Disabil Res. 2010 Jul;54(7):597-610. doi: 10.1111/j.1365-2788.2010.01290.x.

PMID:
20629912
12.

The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA.

Khateb S, Weisman-Shomer P, Hershco-Shani I, Ludwig AL, Fry M.

Nucleic Acids Res. 2007;35(17):5775-88. Epub 2007 Aug 23.

13.

Size bias of fragile X premutation alleles in late-onset movement disorders.

Jacquemont S, Leehey MA, Hagerman RJ, Beckett LA, Hagerman PJ.

J Med Genet. 2006 Oct;43(10):804-9. Epub 2006 May 24.

14.

CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure.

Chatterjee S, Maitra A, Kadam S, Patel Z, Gokral J, Meherji P.

Reprod Biomed Online. 2009 Aug;19(2):281-6.

PMID:
19712568
15.

Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, Sasaki T, Kato N, Nanba E.

Brain Dev. 2010 Feb;32(2):110-4. doi: 10.1016/j.braindev.2008.12.015. Epub 2009 Feb 10.

PMID:
19211207
16.

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X.

J Med Genet. 1996 Apr;33(4):338-40.

17.

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ.

Hum Genet. 1994 Nov;94(5):523-6.

PMID:
7959688
18.

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.

Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ.

Hum Mol Genet. 2004 Mar 1;13(5):543-9. Epub 2004 Jan 13.

PMID:
14722156
19.

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.

Capelli LP, Gonçalves MR, Kok F, Leite CC, Nitrini R, Barbosa ER, Vianna-Morgante AM.

Mov Disord. 2007 Apr 30;22(6):866-70.

PMID:
17290448
20.

Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation.

Hocking DR, Kogan CS, Cornish KM.

Brain Cogn. 2012 Jun;79(1):39-44. doi: 10.1016/j.bandc.2012.02.005. Epub 2012 Mar 12.

PMID:
22417865

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