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Journal Abstract Search

410 related items for PubMed ID: 22489151

  • 1. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
    Stuppia L, Antonucci I, Palka G, Gatta V.
    Int J Mol Sci; 2012; 13(3):3245-3276. PubMed ID: 22489151
    [Abstract] [Full Text] [Related]

  • 2. [Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA].
    Zhang Y, Liu X, He R, Ma H, Zhao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun; 31(3):338-43. PubMed ID: 24928015
    [Abstract] [Full Text] [Related]

  • 3. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.
    Shen Y, Wu BL.
    J Genet Genomics; 2009 Apr; 36(4):257-65. PubMed ID: 19376486
    [Abstract] [Full Text] [Related]

  • 4. MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
    Amico G, Grossi S, Vijzelaar R, Lanza F, Mazzotti R, Corsolini F, Ketema M, Filocamo M.
    Mol Genet Metab; 2016 Dec; 119(4):329-337. PubMed ID: 27802905
    [Abstract] [Full Text] [Related]

  • 5. Multiplex ligation-dependent probe amplification (MLPA) assay for blood group genotyping, copy number quantification, and analysis of RH variants.
    Veldhuisen B, van der Schoot CE, de Haas M.
    Immunohematology; 2015 Dec; 31(2):58-61. PubMed ID: 26495890
    [Abstract] [Full Text] [Related]

  • 6. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
    Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
    [Abstract] [Full Text] [Related]

  • 7. Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).
    de Boer S, White SJ.
    Methods Mol Biol; 2017 Jun; 1492():147-153. PubMed ID: 27822861
    [Abstract] [Full Text] [Related]

  • 8. Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method.
    Dalay N.
    Methods Mol Biol; 2018 Jun; 1726():7-18. PubMed ID: 29468539
    [Abstract] [Full Text] [Related]

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  • 10. Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics.
    Hömig-Hölzel C, Savola S.
    Diagn Mol Pathol; 2012 Dec; 21(4):189-206. PubMed ID: 23111197
    [Abstract] [Full Text] [Related]

  • 11. Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.
    Sansović I, Barišić I, Dumić K.
    Biochem Genet; 2013 Apr; 51(3-4):189-201. PubMed ID: 23224783
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  • 13. [Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].
    Long F, Sun W, Ji X, Li XH, Liu XQ, Jiang WT, Tao J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):699-704. PubMed ID: 22161109
    [Abstract] [Full Text] [Related]

  • 14. Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis.
    Massalska D, Bijok J, Zimowski JG, Jóźwiak A, Jakiel G, Roszkowski T.
    Ginekol Pol; 2013 Jun; 84(6):461-4. PubMed ID: 24032265
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  • 16. Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA).
    Moelans CB, Atanesyan L, Savola SP, van Diest PJ.
    Methods Mol Biol; 2018 Jun; 1708():537-549. PubMed ID: 29224162
    [Abstract] [Full Text] [Related]

  • 17. New applications and developments in the use of multiplex ligation-dependent probe amplification.
    Kozlowski P, Jasinska AJ, Kwiatkowski DJ.
    Electrophoresis; 2008 Dec; 29(23):4627-36. PubMed ID: 19053154
    [Abstract] [Full Text] [Related]

  • 18. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
    Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E.
    Clin Chim Acta; 2009 Apr; 402(1-2):164-70. PubMed ID: 19263525
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  • 20. Copy number variation and gene rearrangements in CYP2D6 genotyping using multiplex ligation-dependent probe amplification in Koreans.
    Kim J, Lee SY, Lee KA.
    Pharmacogenomics; 2012 Jun; 13(8):963-73. PubMed ID: 22676200
    [Abstract] [Full Text] [Related]

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