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Journal Abstract Search

410 related items for PubMed ID: 22489151

  • 21. Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies.
    Schouten J, van Vught P, Galjaard RJ.
    Methods Mol Biol; 2019; 1885():161-170. PubMed ID: 30506197
    [Abstract] [Full Text] [Related]

  • 22. Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.
    Belvini D, Salviato R, Radossi P, Tagariello G.
    Haemophilia; 2017 Mar; 23(2):e124-e132. PubMed ID: 28205367
    [Abstract] [Full Text] [Related]

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  • 24. A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.
    Zhang X, Xu Y, Liu D, Geng J, Chen S, Jiang Z, Fu Q, Sun K.
    BMC Genomics; 2015 May 08; 16(1):364. PubMed ID: 25952753
    [Abstract] [Full Text] [Related]

  • 25. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
    Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.
    Eur J Hum Genet; 2010 Oct 08; 18(10):1133-40. PubMed ID: 20461111
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  • 27. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
    Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A.
    Nucleic Acids Res; 2005 Aug 16; 33(14):e128. PubMed ID: 16106041
    [Abstract] [Full Text] [Related]

  • 28. Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations.
    Yang Y, Xia C, Song X, Tang X, Nie X, Xu W, Du C, Zhang H, Luo P.
    Mol Neurobiol; 2024 Jan 16; 61(1):200-211. PubMed ID: 37596438
    [Abstract] [Full Text] [Related]

  • 29. Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.
    Mayorga L, Laurito SR, Loos MA, Eiroa HD, de Pinho S, Lubieniecki F, Arroyo HA, Pereyra MF, Kauffman MA, Roqué M.
    Mitochondrial DNA A DNA Mapp Seq Anal; 2016 Jul 16; 27(4):2864-7. PubMed ID: 26114318
    [Abstract] [Full Text] [Related]

  • 30. Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection.
    Saxena S, Gowdhaman K, Kkani P, Vennapusa B, Rama Subramanian C, Ganesh Kumar S, Mohan KN.
    Clin Chim Acta; 2015 Oct 23; 450():19-24. PubMed ID: 26234520
    [Abstract] [Full Text] [Related]

  • 31. Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.
    Zhou Q, Yao F, Han X, Li H, Yang L, Sui R.
    Exp Eye Res; 2017 Nov 23; 164():64-73. PubMed ID: 28774736
    [Abstract] [Full Text] [Related]

  • 32. [Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].
    Liu Y, Xie J, Geng Q, Xu Z, Wu W, Luo F, Li S, Wang Q, Chen W, Tan H, Zhang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb 10; 34(1):1-5. PubMed ID: 28186583
    [Abstract] [Full Text] [Related]

  • 33. Comparison of the accuracy of multiplex digital PCR versus multiplex ligation-dependent probe amplification in quantification of the survival of motor neuron genes copy numbers.
    Jiang Y, Xia Z, Zhou Y, Lu X, Du X, Guo Q.
    Clin Chim Acta; 2024 Jan 15; 553():117708. PubMed ID: 38097128
    [Abstract] [Full Text] [Related]

  • 34. Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.
    Vendelbosch S, de Boer M, Gouw RA, Ho CK, Geissler J, Swelsen WT, Moorhouse MJ, Lardy NM, Roos D, van den Berg TK, Kuijpers TW.
    PLoS One; 2013 Jan 15; 8(6):e67619. PubMed ID: 23840750
    [Abstract] [Full Text] [Related]

  • 35. A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
    Minaidou A, Tamana S, Stephanou C, Xenophontos M, Harteveld CL, Bento C, Kleanthous M, Kountouris P.
    Int J Mol Sci; 2022 Dec 14; 23(24):. PubMed ID: 36555557
    [Abstract] [Full Text] [Related]

  • 36. Human papillomavirus multiplex ligation-dependent probe amplification assay for the assessment of viral load, integration, and gain of telomerase-related genes in cervical malignancies.
    Theelen W, Litjens RJ, Vinokurova S, Haesevoets A, Reijans M, Simons G, Smedts F, Herrington CS, Ramaekers FC, von Knebel Doeberitz M, Speel EJ, Hopman AH.
    Hum Pathol; 2013 Nov 14; 44(11):2410-8. PubMed ID: 23968641
    [Abstract] [Full Text] [Related]

  • 37. Detection of CCND1 Gene Copy Number Variations Using Multiplex Ligation-Dependent Probe Amplification and Fluorescence In Situ Hybridization Methods.
    Ooi A, Oyama T.
    Methods Mol Biol; 2018 Nov 14; 1726():101-109. PubMed ID: 29468547
    [Abstract] [Full Text] [Related]

  • 38. [The application of multiplex ligation-dependent probe amplification technology in diagnosis and prenatal diagnosis of α-thalassemia].
    Chen YJ, Yang XH, Zeng XQ, Qiao LL.
    Zhonghua Xue Ye Xue Za Zhi; 2013 Jul 14; 34(7):591-4. PubMed ID: 23906452
    [Abstract] [Full Text] [Related]

  • 39. MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.
    Zimowski JG, Massalska D, Holding M, Jadczak S, Fidziańska E, Lusakowska A, Kostera-Pruszczyk A, Kamińska A, Zaremba J.
    Neurol Neurochir Pol; 2014 Jul 14; 48(6):416-22. PubMed ID: 25482253
    [Abstract] [Full Text] [Related]

  • 40. [Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].
    Zhao W, Jiang N, Li S, Li JS, Miao Y, Liang SY, Yu DY.
    Zhonghua Fu Chan Ke Za Zhi; 2019 Apr 25; 54(4):226-231. PubMed ID: 31006187
    [Abstract] [Full Text] [Related]

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