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Results: 1 to 20 of 105

Similar articles for PubMed (Select 20056738)

1.

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F.

Clin Chem. 2010 Mar;56(3):399-408. doi: 10.1373/clinchem.2009.136101. Epub 2010 Jan 7.

2.

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
3.

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F, Latham GJ.

J Mol Diagn. 2010 Sep;12(5):589-600. doi: 10.2353/jmoldx.2010.090227. Epub 2010 Jul 8.

4.

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
5.

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.

6.

High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.

Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J.

Hum Genet. 1997 Oct;100(5-6):564-8.

PMID:
9341871
7.

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.

8.

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.

Grasso M, Boon EM, Filipovic-Sadic S, van Bunderen PA, Gennaro E, Cao R, Latham GJ, Hadd AG, Coviello DA.

J Mol Diagn. 2014 Jan;16(1):23-31. doi: 10.1016/j.jmoldx.2013.09.004. Epub 2013 Oct 29.

9.

Expand Long PCR for fragile X mutation detection.

Hećimović S, Barisić I, Müller A, Petković I, Barić I, Ligutić I, Pavelić K.

Clin Genet. 1997 Sep;52(3):147-54.

PMID:
9377803
10.

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.

PMID:
23949867
11.

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.

12.

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

Strom CM, Huang D, Li Y, Hantash FM, Rooke J, Potts SJ, Sun W.

Genet Med. 2007 Apr;9(4):199-207.

PMID:
17438383
13.

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.

Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, De Rademaeker M, Ullmann U, Haentjens P, Van Berkel K, Van Dooren S.

J Mol Diagn. 2012 Nov;14(6):560-8. doi: 10.1016/j.jmoldx.2012.05.003. Epub 2012 Aug 23.

14.

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.

15.

A methylation PCR approach for detection of fragile X syndrome.

Panagopoulos I, Lassen C, Kristoffersson U, Aman P.

Hum Mutat. 1999;14(1):71-9.

PMID:
10447261
16.

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

Jorge P, Oliveira B, Marques I, Santos R.

BMC Med Genet. 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80.

17.
18.

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.

PMID:
24630283
19.

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

Zhou Y, Lum JM, Yeo GH, Kiing J, Tay SK, Chong SS.

Clin Chem. 2006 Aug;52(8):1492-500. Epub 2006 Jun 22.

20.

Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome.

Curtis-Cioffi KM, Rodrigueiro DA, Rodrigues VC, Cicarelli RM, Scarel-Caminaga RM.

Genet Test Mol Biomarkers. 2012 Nov;16(11):1303-8. doi: 10.1089/gtmb.2012.0158.

PMID:
23101592
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