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Journal Abstract Search

182 related items for PubMed ID: 18450588

  • 21. A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
    Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD.
    Hum Mutat; 2003 Jun; 21(6):645-8. PubMed ID: 12754712
    [Abstract] [Full Text] [Related]

  • 22. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
    Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.
    Hum Mutat; 2006 Jul; 27(7):644-53. PubMed ID: 16708387
    [Abstract] [Full Text] [Related]

  • 23. Detection and quantification of insertion/deletion variations by allele-specific real-time PCR: application for genotyping and chimerism analysis.
    Wilhelm J, Reuter H, Tews B, Pingoud A, Hahn M.
    Biol Chem; 2002 Sep; 383(9):1423-33. PubMed ID: 12437135
    [Abstract] [Full Text] [Related]

  • 24. Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.
    Cukier HN, Pericak-Vance MA, Gilbert JR, Hedges DJ.
    Anal Biochem; 2009 Mar 15; 386(2):288-90. PubMed ID: 19121619
    [Abstract] [Full Text] [Related]

  • 25. Identification of a synonymous polymorphism within the cytochrome P4502C9 gene that interferes with identification of the CYP2C9*2 allele.
    Womack EP, Reynolds KK, Valdes R, Linder MW.
    Ther Drug Monit; 2007 Oct 15; 29(5):607-11. PubMed ID: 17898651
    [Abstract] [Full Text] [Related]

  • 26. High-throughput genotyping of copy number variation in glutathione S-transferases M1 and T1 using real-time PCR in 20,687 individuals.
    Nørskov MS, Frikke-Schmidt R, Loft S, Tybjaerg-Hansen A.
    Clin Biochem; 2009 Feb 15; 42(3):201-9. PubMed ID: 19026998
    [Abstract] [Full Text] [Related]

  • 27. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR.
    Wilke K, Duman B, Horst J.
    Hum Mutat; 2000 Nov 15; 16(5):431-6. PubMed ID: 11058901
    [Abstract] [Full Text] [Related]

  • 28. [Analysis of the genetic variability of complement component C4 by real-time PCR].
    Agnes S, Bernadett B, Dénes S, György F, Sasvári-Székely M, Zsolt R.
    Neuropsychopharmacol Hung; 2007 Mar 15; 9(1):5-10. PubMed ID: 17879559
    [Abstract] [Full Text] [Related]

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  • 30. Null Mutation of the Fascin2 Gene by TALEN Leading to Progressive Hearing Loss and Retinal Degeneration in C57BL/6J Mice.
    Liu X, Zhao M, Xie Y, Li P, Wang O, Zhou B, Yang L, Nie Y, Cheng L, Song X, Jin C, Han F.
    G3 (Bethesda); 2018 Oct 03; 8(10):3221-3230. PubMed ID: 30082328
    [Abstract] [Full Text] [Related]

  • 31. DNA-based genotyping techniques for the detection of point mutations associated with insecticide resistance in Colorado potato beetle Leptinotarsa decemlineata.
    Clark JM, Lee SH, Kim HJ, Yoon KS, Zhang A.
    Pest Manag Sci; 2001 Oct 03; 57(10):968-74. PubMed ID: 11695191
    [Abstract] [Full Text] [Related]

  • 32. A multiplex real-time PCR method for detection of GSTM1 and GSTT1 copy numbers.
    Timofeeva M, Jäger B, Rosenberger A, Sauter W, Wichmann HE, KORA Study Group, Bickeböller H, Risch A.
    Clin Biochem; 2009 Apr 03; 42(6):500-9. PubMed ID: 19161997
    [Abstract] [Full Text] [Related]

  • 33. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.
    Linzmeier RM, Ganz T.
    Genomics; 2005 Oct 03; 86(4):423-30. PubMed ID: 16039093
    [Abstract] [Full Text] [Related]

  • 34. [Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].
    Long MJ, Song F, Qu YJ, Meng Y, Wang H, Jin YW, Huang SZ.
    Zhonghua Yi Xue Za Zhi; 2008 May 13; 88(18):1259-63. PubMed ID: 18844099
    [Abstract] [Full Text] [Related]

  • 35. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.
    Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, Duga S.
    Haematologica; 2008 May 13; 93(5):715-21. PubMed ID: 18387979
    [Abstract] [Full Text] [Related]

  • 36. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.
    Invest Ophthalmol Vis Sci; 2009 Nov 13; 50(11):5107-14. PubMed ID: 19516003
    [Abstract] [Full Text] [Related]

  • 37. Simple approach to reduce PCR artefact formation leads to reliable genotyping of MHC and other highly polymorphic loci--implications for evolutionary analysis.
    Lenz TL, Becker S.
    Gene; 2008 Dec 31; 427(1-2):117-23. PubMed ID: 18848974
    [Abstract] [Full Text] [Related]

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  • 39. A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.
    Zhou WJ, Liu WY, Liu D, Jiang JH, Zhou DM, Zhong ZY, Xu XM.
    Anal Biochem; 2012 Aug 15; 427(2):144-50. PubMed ID: 22617799
    [Abstract] [Full Text] [Related]

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