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Journal Abstract Search

160 related items for PubMed ID: 17674414

  • 21. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
    Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML.
    Eur J Med Genet; 2010; 53(3):117-21. PubMed ID: 20302979
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  • 23. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.
    Hansen Tv, Jønson L, Albrechtsen A, Andersen MK, Ejlertsen B, Nielsen FC.
    Breast Cancer Res Treat; 2009 May; 115(2):315-23. PubMed ID: 18546071
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  • 25. Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.
    Liu JZ, Han H, Schouten JP, Wang LR, Fan XP, Duarte HB, Zhu CJ, Cai R, Xiao B, Wang QT.
    Hemoglobin; 2008 May; 32(6):561-71. PubMed ID: 19065334
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  • 27. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
    Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MM, Hennekam RC.
    Eur J Hum Genet; 2007 Apr; 15(4):505-8. PubMed ID: 17264868
    [Abstract] [Full Text] [Related]

  • 28. Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay.
    Wildförster V, Dekomien G.
    Mol Cell Probes; 2009 Feb; 23(1):55-9. PubMed ID: 19056483
    [Abstract] [Full Text] [Related]

  • 29. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
    Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B.
    Mov Disord; 2007 Nov 15; 22(15):2274-8. PubMed ID: 17914726
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  • 31. Large genomic rearrangements in the CFTR gene contribute to CBAVD.
    Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M.
    BMC Med Genet; 2007 Apr 20; 8():22. PubMed ID: 17448246
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  • 32. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
    Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E.
    Eur J Hum Genet; 2005 Apr 20; 13(4):470-4. PubMed ID: 15586175
    [Abstract] [Full Text] [Related]

  • 33. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.
    Ratajska M, Brozek I, Senkus-Konefka E, Jassem J, Stepnowska M, Palomba G, Pisano M, Casula M, Palmieri G, Borg A, Limon J.
    Oncol Rep; 2008 Jan 20; 19(1):263-8. PubMed ID: 18097605
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  • 34. Gene dosage and mutational analyses of EGFR in oligodendrogliomas.
    Franco-Hernandez C, Martinez-Glez V, Alonso ME, De Campos JM, Isla A, Vaquero J, Gutierrez M, Rey JA.
    Int J Oncol; 2007 Jan 20; 30(1):209-15. PubMed ID: 17143531
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  • 35. New applications and developments in the use of multiplex ligation-dependent probe amplification.
    Kozlowski P, Jasinska AJ, Kwiatkowski DJ.
    Electrophoresis; 2008 Dec 20; 29(23):4627-36. PubMed ID: 19053154
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  • 36. Screening for large mutations of the NF2 gene.
    Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V.
    Genes Chromosomes Cancer; 2005 Apr 20; 42(4):384-91. PubMed ID: 15645494
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  • 37. 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
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  • 38. [Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].
    Zeng J, Ke LF, Deng XJ, Cai MY, Tu XD, Lan FH.
    Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3262-4. PubMed ID: 19159550
    [Abstract] [Full Text] [Related]

  • 39. Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
    Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, Oscarson M.
    Clin Genet; 2008 May 16; 73(5):453-64. PubMed ID: 18384427
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  • 40. 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 16; 36(4):257-65. PubMed ID: 19376486
    [Abstract] [Full Text] [Related]

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