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Journal Abstract Search

247 related items for PubMed ID: 15108271

  • 1. MLPA and MAPH: new techniques for detection of gene deletions.
    Sellner LN, Taylor GR.
    Hum Mutat; 2004 May; 23(5):413-9. PubMed ID: 15108271
    [Abstract] [Full Text] [Related]

  • 2. Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
    Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C.
    Eur J Hum Genet; 2005 Aug; 13(8):983-6. PubMed ID: 15870828
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. The detection of large deletions or duplications in genomic DNA.
    Armour JA, Barton DE, Cockburn DJ, Taylor GR.
    Hum Mutat; 2002 Nov; 20(5):325-37. PubMed ID: 12402329
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.
    Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G.
    Hum Mutat; 2005 Feb; 25(2):125-34. PubMed ID: 15643602
    [Abstract] [Full Text] [Related]

  • 7. MLPA and MAPH: sensitive detection of deletions and duplications.
    den Dunnen JT, White SJ.
    Curr Protoc Hum Genet; 2006 Nov; Chapter 7():Unit 7.14. PubMed ID: 18428396
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
    Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
    J Med Genet; 2008 Jun; 45(6):355-61. PubMed ID: 18285425
    [Abstract] [Full Text] [Related]

  • 10. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
    Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R.
    Neurology; 2007 Feb 06; 68(6):446-50. PubMed ID: 17283321
    [Abstract] [Full Text] [Related]

  • 11. Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
    Damgaard D, Nissen PH, Jensen LG, Nielsen GG, Stenderup A, Larsen ML, Faergeman O.
    BMC Med Genet; 2005 Apr 20; 6():15. PubMed ID: 15842735
    [Abstract] [Full Text] [Related]

  • 12. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
    Desviat LR, Pérez B, Ugarte M.
    Clin Chim Acta; 2006 Nov 20; 373(1-2):164-7. PubMed ID: 16875683
    [Abstract] [Full Text] [Related]

  • 13. 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 20; 36(4):257-65. PubMed ID: 19376486
    [Abstract] [Full Text] [Related]

  • 14. 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 20; 39(4):367-72. PubMed ID: 16413013
    [Abstract] [Full Text] [Related]

  • 15. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.
    Hung CC, Lee CN, Lin CY, Cheng WF, Chen CA, Hsieh ST, Yang CC, Jong YJ, Su YN, Lin WL.
    Electrophoresis; 2008 Feb 20; 29(3):618-25. PubMed ID: 18200636
    [Abstract] [Full Text] [Related]

  • 16. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
    Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH.
    Hum Mutat; 2004 Aug 20; 24(2):164-71. PubMed ID: 15241798
    [Abstract] [Full Text] [Related]

  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 20; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 18. Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences.
    Eijk-Van Os PG, Schouten JP.
    Methods Mol Biol; 2011 Aug 20; 688():97-126. PubMed ID: 20938835
    [Abstract] [Full Text] [Related]

  • 19. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
    Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J.
    Eur J Hum Genet; 2007 Dec 20; 15(12):1218-29. PubMed ID: 17712354
    [Abstract] [Full Text] [Related]

  • 20. 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 20; 26(5):477-86. PubMed ID: 16170807
    [Abstract] [Full Text] [Related]

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