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Results: 1 to 20 of 81

1.

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee.

J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. Erratum in: J Mol Diagn. 2009 Sep 1;11(5):494.

PMID:
18165276
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR.

Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Erratum in: Eur J Hum Genet. 2013 Apr;21(4):478.

PMID:
20736975
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Nahhas FA, Monroe TJ, Prior TW, Botma PI, Fang J, Snyder PJ, Talbott SL, Feldman GL.

Genet Test Mol Biomarkers. 2012 Mar;16(3):187-92. doi: 10.1089/gtmb.2011.0128. Epub 2011 Oct 12.

PMID:
21992462
[PubMed - indexed for MEDLINE]
5.

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.

Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ.

Genome Res. 2013 Jan;23(1):121-8. doi: 10.1101/gr.141705.112. Epub 2012 Oct 11.

PMID:
23064752
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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]
7.

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. Epub 2007 Dec 5.

PMID:
18057320
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ.

J Mol Diagn. 2008 Jan;10(1):43-9. doi: 10.2353/jmoldx.2008.070073. Epub 2007 Dec 28.

PMID:
18165273
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.

PMID:
20168238
[PubMed - indexed for MEDLINE]
10.

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

Basehore MJ, Marlowe NM, Jones JR, Behlendorf DE, Laver TA, Friez MJ.

Genet Test Mol Biomarkers. 2012 Jun;16(6):465-70. doi: 10.1089/gtmb.2011.0134. Epub 2012 Jan 6.

PMID:
22224633
[PubMed - indexed for MEDLINE]
12.

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

Lyon E, Laver T, Yu P, Jama M, Young K, Zoccoli M, Marlowe N.

J Mol Diagn. 2010 Jul;12(4):505-11. doi: 10.2353/jmoldx.2010.090229. Epub 2010 Apr 29.

PMID:
20431035
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

Bodega B, Bione S, Dalprà L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A.

Hum Reprod. 2006 Apr;21(4):952-7. Epub 2005 Dec 16.

PMID:
16361284
[PubMed - indexed for MEDLINE]
Free Article
14.

An assessment of screening strategies for fragile X syndrome in the UK.

Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G.

Health Technol Assess. 2001;5(7):1-95. Review.

PMID:
11262423
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

Transcription of the FMR1 gene in individuals with fragile X syndrome.

Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ.

Am J Med Genet. 2000 Fall;97(3):195-203.

PMID:
11449488
[PubMed - indexed for MEDLINE]
17.

AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.

Poon PM, Chen QL, Zhong N, Lam ST, Lai KY, Wong CK, Pang CP.

Clin Biochem. 2006 Mar;39(3):244-8. Epub 2005 Dec 7.

PMID:
16337617
[PubMed - indexed for MEDLINE]
18.

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

Han XD, Powell BR, Phalin JL, Chehab FF.

Am J Med Genet A. 2006 Jul 1;140(13):1463-71.

PMID:
16761284
[PubMed - indexed for MEDLINE]
19.

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S.

Obstet Gynecol. 2008 Mar;111(3):596-601. doi: 10.1097/AOG.0b013e318163be0b.

PMID:
18310361
[PubMed - indexed for MEDLINE]
20.

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.

Kogan CS, Turk J, Hagerman RJ, Cornish KM.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72. doi: 10.1002/ajmg.b.30685.

PMID:
18165971
[PubMed - indexed for MEDLINE]

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