These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

373 related articles for article (PubMed ID: 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. PubMed ID: 20056738
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 21992462
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 20168238
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 20616364
    [TBL] [Abstract][Full Text] [Related]  

  • 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 A; Sah S; Houghton JF; Filipovic-Sadic S; Zhang W; Hagerman PJ; Tassone F; Latham GJ
    Genet Med; 2011 Jun; 13(6):528-538. PubMed ID: 21430544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene.
    Wang H; Zhu X; Gui B; Cheung WC; Shi M; Yang Z; Kwok KY; Lim R; Pietilä S; Zhu Y; Choy KW
    J Vis Exp; 2019 Sep; (151):. PubMed ID: 31566610
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 9341871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
    Cai X; Arif M; Wan H; Kornreich R; Edelmann LJ
    Methods Mol Biol; 2019; 1942():11-27. PubMed ID: 30900172
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CGG-repeat dynamics and
    Zhou Y; Kumari D; Sciascia N; Usdin K
    Mol Autism; 2016; 7():42. PubMed ID: 27713816
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Triplet-Primed PCR Assays for Accurate Screening of FMR1 CGG Repeat Expansion and Genotype Verification.
    Rajan-Babu IS; Lian M; Chong SS
    Curr Protoc; 2022 May; 2(5):e427. PubMed ID: 35609145
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 20431035
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.
    Pandelache A; Francis D; Oertel R; Dickson R; Sachdev R; Ling L; Gamage D; Godler DE
    Genes (Basel); 2021 May; 12(6):. PubMed ID: 34073864
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.
    Gu H; Kim MJ; Yang D; Song JY; Cho SI; Park SS; Seong MW
    Ann Lab Med; 2021 Jul; 41(4):394-400. PubMed ID: 33536358
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 23949867
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 17():e7. PubMed ID: 25936533
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.
    Hou F; Mao A; Shan S; Li Y; Meng W; Zhan J; Nie W; Jin H
    Clin Chim Acta; 2023 Nov; 551():117614. PubMed ID: 38375623
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 24177047
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 9377803
    [TBL] [Abstract][Full Text] [Related]  

  • 19. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.
    Rajan-Babu IS; Lian M; Cheah FSH; Chen M; Tan ASC; Prasath EB; Loh SF; Chong SS
    Expert Rev Mol Med; 2017 Jul; 19():e10. PubMed ID: 28720156
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 10447261
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.