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Journal Abstract Search

338 related items for PubMed ID: 19376486

  • 1. 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
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  • 2. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.
    White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT.
    Hum Mutat; 2004 Jul; 24(1):86-92. PubMed ID: 15221792
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  • 4. 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
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  • 6. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
    Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.
    Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
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  • 8. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.
    Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.
    J Med Genet; 2009 Jun; 46(6):412-7. PubMed ID: 19246478
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  • 10. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
    Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST.
    Clin Biochem; 2006 Apr; 39(4):367-72. PubMed ID: 16413013
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  • 11. Deletion and duplication screening in the DMD gene using MLPA.
    Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT.
    Eur J Hum Genet; 2005 Nov; 13(11):1231-4. PubMed ID: 16030524
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  • 12. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
    Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR.
    Hum Mutat; 2005 Nov; 26(5):477-86. PubMed ID: 16170807
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  • 13. [Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].
    Zhu L, Wang C, Yang X, Wang Y, Liu X, He X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec; 26(6):644-7. PubMed ID: 19953486
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  • 14. Fluorescent resonance energy transfer (FRET) based detection of a multiplex ligation-dependent probe amplification assay (MLPA) product.
    Ozalp VC, Nygren AO, O'Sullivan CK.
    Mol Biosyst; 2008 Sep; 4(9):950-4. PubMed ID: 18704233
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  • 18. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
    Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y.
    Hum Mutat; 2008 Jan; 29(1):190-7. PubMed ID: 17854090
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  • 20. Detection of copy number changes at multiple loci in DNA prepared from formalin-fixed, paraffin-embedded tissue by multiplex ligation-dependent probe amplification.
    Takata M.
    Methods Mol Biol; 2008 Jan; 439():101-8. PubMed ID: 18370098
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