BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

82 related articles for article (PubMed ID: 12552557)

  • 1. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
    Emmerson P; Maynard J; Jones S; Butler R; Sampson JR; Cheadle JP
    Hum Mutat; 2003 Feb; 21(2):112-5. PubMed ID: 12552557
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.
    Antonarakis ES; Sampson JR; Cheadle JP
    J Biochem Biophys Methods; 2002 Apr; 51(2):161-4. PubMed ID: 12062115
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Low level mosaicism detectable by DHPLC but not by direct sequencing.
    Jones AC; Sampson JR; Cheadle JP
    Hum Mutat; 2001 Mar; 17(3):233-4. PubMed ID: 11241845
    [No Abstract]   [Full Text] [Related]  

  • 4. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
    Bénit P; Bonnefont JP; Kara Mostefa A; Francannet C; Munnich A; Ray PF
    Prenat Diagn; 2001 Apr; 21(4):279-83. PubMed ID: 11288117
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
    Bénit P; Kara-Mostefa A; Berthelon M; Sengmany K; Munnich A; Bonnefont JP
    Hum Mutat; 2000 Nov; 16(5):417-21. PubMed ID: 11058899
    [TBL] [Abstract][Full Text] [Related]  

  • 6. NF1 gene analysis based on DHPLC.
    De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
    Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
    Choi JE; Chae JH; Hwang YS; Kim KJ
    Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
    Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
    Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evaluation of denaturing high-performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall-cell lung cancer.
    Cohen V; Agulnik JS; Jarry J; Batist G; Small D; Kreisman H; Tejada NA; Miller WH; Chong G
    Cancer; 2006 Dec; 107(12):2858-65. PubMed ID: 17096434
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
    Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
    BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.
    Crépin M; Pigny P; Escande F; Bauters CC; Calender A; Lefevre S; Buisine MP; Porchet N; Odou MF
    J Mol Endocrinol; 2006 Apr; 36(2):369-76. PubMed ID: 16595707
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
    Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
    Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.
    Rohlin A; Wernersson J; Engwall Y; Wiklund L; Björk J; Nordling M
    Hum Mutat; 2009 Jun; 30(6):1012-20. PubMed ID: 19347965
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
    Item CB; Stöckler-Ipsiroglu S; Willheim C; Mühl A; Bodamer OA
    Mol Genet Metab; 2005; 86(1-2):328-34. PubMed ID: 16054853
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enhanced detection of TP53 mutations using a GC-clamp in denaturing high performance liquid chromatography.
    Greiner TC
    Diagn Mol Pathol; 2007 Mar; 16(1):32-7. PubMed ID: 17471156
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
    Sancak O; Nellist M; Goedbloed M; Elfferich P; Wouters C; Maat-Kievit A; Zonnenberg B; Verhoef S; Halley D; van den Ouweland A
    Eur J Hum Genet; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
    Young JM; Burley MW; Jeremiah SJ; Jeganathan D; Ekong R; Osborne JP; Povey S
    Ann Hum Genet; 1998 May; 62(Pt 3):203-13. PubMed ID: 9803264
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
    Sasongko TH; Wataya-Kaneda M; Koterazawa K; Gunadi ; Yusoff S; Harahap IS; Lee MJ; Matsuo M; Nishio H
    Kobe J Med Sci; 2008 May; 54(1):E73-81. PubMed ID: 18772611
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of gsp somatic mutation through direct sequencing of heteroduplex alleles disclosed by denaturing gradient gel electrophoresis.
    Fragoso MC; Lando VS; Latronico AC; Frazzatto ET; Russell AJ; Mendonca BB
    Med Sci Monit; 2002 Jan; 8(1):BR15-8. PubMed ID: 11782667
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.