Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 101

1.

Gene silencing in fragile X syndrome explained: researchers pinpoint how excessive nucleotide repeats shut down protein production.

[No authors listed]

Am J Med Genet A. 2014 Jun;164A(6):vii-viii. doi: 10.1002/ajmg.a.36607. No abstract available.

PMID:
24807393
[PubMed - indexed for MEDLINE]
2.

Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.

Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, Disney MD, Jaffrey SR.

Science. 2014 Feb 28;343(6174):1002-5. doi: 10.1126/science.1245831.

PMID:
24578575
[PubMed - indexed for MEDLINE]
3.

Premature ovarian failure: a phenotypic expression of fragile X premutation.

Holoch K, Stein Q, Flanagan J, Hansen K.

S D Med. 2008 Jan;61(1):13, 15.

PMID:
18323308
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
21767618
[PubMed - indexed for MEDLINE]
5.

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.

Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ.

J Med Genet. 2001 Jul;38(7):453-6.

PMID:
11432964
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.

Biacsi R, Kumari D, Usdin K.

PLoS Genet. 2008 Mar 7;4(3):e1000017. doi: 10.1371/journal.pgen.1000017.

PMID:
18369442
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG.

Brain. 2004 Dec;127(Pt 12):2672-81. Epub 2004 Oct 13.

PMID:
15483045
[PubMed - indexed for MEDLINE]
Free Article
8.

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

Peprah E, He W, Allen E, Oliver T, Boyne A, Sherman SL.

J Hum Genet. 2010 Jan;55(1):66-8. doi: 10.1038/jhg.2009.121. Epub 2009 Nov 20.

PMID:
19927162
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Rearrangements in the flanking sequences of the triplet repeat of the FMR1 gene give clues to the mechanisms involved in repeat instability in fragile X.

Mononen T, von Koskull H, Airaksinen RL, Juvonen V.

DNA Repair (Amst). 2008 May 3;7(5):684-5. doi: 10.1016/j.dnarep.2008.01.015. Epub 2008 Mar 11. No abstract available.

PMID:
18337192
[PubMed - indexed for MEDLINE]
10.

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.

Kumari D, Usdin K.

Hum Mol Genet. 2010 Dec 1;19(23):4634-42. doi: 10.1093/hmg/ddq394. Epub 2010 Sep 14.

PMID:
20843831
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

The pathophysiology of fragile x syndrome.

Penagarikano O, Mulle JG, Warren ST.

Annu Rev Genomics Hum Genet. 2007;8:109-29. Review.

PMID:
17477822
[PubMed - indexed for MEDLINE]
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.

PMID:
22612820
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
19105204
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
21476992
[PubMed - indexed for MEDLINE]
16.

Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.

Katikala L, Guruju MR, Madireddi S, Vallamkonda O, Vallamkonda N, Persha A, Spurgeon AM.

Genet Test Mol Biomarkers. 2011 Apr;15(4):281-4. doi: 10.1089/gtmb.2010.0167. Epub 2011 Jan 23.

PMID:
21254876
[PubMed - indexed for MEDLINE]
17.

Molecular analysis of Fragile X syndrome.

Basehore MJ, Friez MJ.

Curr Protoc Hum Genet. 2009 Oct;Chapter 9:Unit 9.5. doi: 10.1002/0471142905.hg0905s63.

PMID:
19806593
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
22022567
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.

Charalsawadi C, Sripo T, Limprasert P.

J Med Assoc Thai. 2005 Aug;88(8):1057-61.

PMID:
16404832
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
17150213
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk