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Items: 1 to 20 of 84

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. Erratum in: J Mol Diagn. 2009 Sep 1;11(5):494.

2.
3.

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.

PMID:
21992462
4.

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.

5.

The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.

Voorhuis M, Onland-Moret NC, Janse F, Ploos van Amstel HK, Goverde AJ, Lambalk CB, Laven JS, van der Schouw YT, Broekmans FJ, Fauser BC; Dutch Primary Ovarian Insufficiency Consortium..

Hum Reprod. 2014 Jul;29(7):1585-93. doi: 10.1093/humrep/deu095.

PMID:
24812319
6.

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. Erratum in: Eur J Hum Genet. 2013 Apr;21(4):478.

7.

Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene.

Schufreider A, McQueen DB, Lee SM, Allon R, Uhler ML, Davie J, Feinberg EC.

Hum Reprod. 2015 Nov;30(11):2686-92. doi: 10.1093/humrep/dev220.

PMID:
26345686
8.

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
9.

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.

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.

PMID:
22224633
11.

A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

Lorefice L, Tranquilli S, Fenu G, Murru MR, Frau J, Rolesu M, Coghe GC, Marrosu F, Marrosu MG, Cocco E.

Neurol Sci. 2015 Dec;36(12):2213-20. doi: 10.1007/s10072-015-2339-2.

PMID:
26194536
12.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I.

Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19.

13.

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ.

Genet Med. 2011 Jun;13(6):528-38. doi: 10.1097/GIM.0b013e31820a780f.

14.

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.

15.

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.

PMID:
16361284
17.
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.

PMID:
14722156
19.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

Birch RC, Hocking DR, Cornish KM, Menant JC, Georgiou-Karistianis N, Godler DE, Wen W, Hackett A, Rogers C, Trollor JN.

Genes Brain Behav. 2015 Mar;14(3):251-9. doi: 10.1111/gbb.12204.

20.

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.

PMID:
16337617

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