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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.


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.


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.


Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.

Chaudhary AG, Hussein IR, Abuzenadah A, Gari M, Bassiouni R, Sogaty S, Lary S, Al-Quaiti M, Al Balwi M, Al Qahtani M.

Pediatr Neurol. 2014 Apr;50(4):368-76. doi: 10.1016/j.pediatrneurol.2013.11.020. Epub 2013 Dec 4.


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.


Molecular analysis of fragile X syndrome.

Basehore MJ, Friez MJ.

Curr Protoc Hum Genet. 2014 Jan 21;80:Unit 9.5.. doi: 10.1002/0471142905.hg0905s80.


Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.


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.


Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Loesch DZ, Bui MQ, Hammersley E, Schneider A, Storey E, Stimpson P, Burgess T, Francis D, Slater H, Tassone F, Hagerman RJ, Hessl D.

Clin Genet. 2015 Feb;87(2):173-8. doi: 10.1111/cge.12347. Epub 2014 Feb 17.


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.


Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.

Rajan-Babu IS, Law HY, Yoon CS, Lee CG, Chong SS.

Expert Rev Mol Med. 2015 May 4;17:e7. doi: 10.1017/erm.2015.5. Review.


Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.

Chandrasekara CH, Wijesundera WS, Perera HN, Chong SS, Rajan-Babu IS.

PLoS One. 2015 Dec 22;10(12):e0145537. doi: 10.1371/journal.pone.0145537. eCollection 2015.


Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.

Lim GX, Loo YL, Mundhofir FE, Cayami FK, Faradz SM, Rajan-Babu IS, Chong SS, Koh YY, Guan M.

J Mol Diagn. 2015 May;17(3):302-14. doi: 10.1016/j.jmoldx.2014.12.005. Epub 2015 Mar 14.


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.


Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.

Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE.

Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11.


Maternal FMR1 premutation allele expansion and contraction in fraternal twins.

Alfaro MP, Cohen M, Vnencak-Jones CL.

Am J Med Genet A. 2013 Oct;161A(10):2620-5. doi: 10.1002/ajmg.a.36123. Epub 2013 Aug 15.


Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Fatima T, Zaidi SA, Sarfraz N, Perween S, Khurshid F, Imtiaz F.

Am J Med Genet A. 2014 May;164A(5):1151-61. doi: 10.1002/ajmg.a.36423. Epub 2014 Jan 29.


Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.

Indhumathi N, Singh D, Chong SS, Thelma BK, Arabandi R, Srisailpathy CR.

Genet Test Mol Biomarkers. 2012 Feb;16(2):113-22. doi: 10.1089/gtmb.2011.0102. Epub 2011 Oct 24.


Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.

Rajan-Babu IS, Teo CR, Lian M, Lee CG, Law HY, Chong SS.

Expert Rev Mol Diagn. 2015 Mar;15(3):431-41. doi: 10.1586/14737159.2015.1001749. Epub 2015 Jan 12.

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