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Journal Abstract Search

82 related items for PubMed ID: 8535442

  • 1. Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone.
    Grace MB, Buzard GS, Weintraub BD.
    Hum Mutat; 1995; 6(3):232-42. PubMed ID: 8535442
    [Abstract] [Full Text] [Related]

  • 2. BRCA1 mutation screening using restriction endonuclease fingerprinting-single-strand conformation polymorphism in an automated capillary electrophoresis system.
    Kringen P, Egedal S, Pedersen JC, Harbitz TB, Tveit KM, Berg K, Børresen-Dale AL, Andersen TI.
    Electrophoresis; 2002 Dec; 23(24):4085-91. PubMed ID: 12481264
    [Abstract] [Full Text] [Related]

  • 3. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
    Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM.
    Mol Cell Probes; 2009 Dec; 23(3-4):148-53. PubMed ID: 19268523
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of unknown beta-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with beta-thalassemias and beta-globin variants.
    Chinchang W, Viprakasit V, Pung-Amritt P, Tanphaichitr VS, Yenchitsomanus PT.
    Clin Biochem; 2005 Nov; 38(11):987-96. PubMed ID: 16139831
    [Abstract] [Full Text] [Related]

  • 5. Detection of mutations and polymorphisms in the p53 tumor suppressor gene by single-strand conformation polymorphism analysis.
    Kutach LS, Bolshakov S, Ananthaswamy HN.
    Electrophoresis; 1999 Jun; 20(6):1204-10. PubMed ID: 10380760
    [Abstract] [Full Text] [Related]

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

  • 7. A rapid and nonisotopic method for the screening and sequencing of p53 gene mutations in formalin-fixed, paraffin-embedded tumors.
    Soong R, Iacopetta BJ.
    Mod Pathol; 1997 Mar; 10(3):252-8. PubMed ID: 9071734
    [Abstract] [Full Text] [Related]

  • 8. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
    Larsen LA, Christiansen M, Vuust J, Andersen PS.
    Hum Mutat; 1999 Mar; 13(4):318-27. PubMed ID: 10220146
    [Abstract] [Full Text] [Related]

  • 9. Direct cycle sequencing of mutated alleles detected by PCR single-strand conformation polymorphism analysis.
    Mok SC, Lo KW, Tsao SW.
    Biotechniques; 1993 May; 14(5):790-4. PubMed ID: 8512704
    [Abstract] [Full Text] [Related]

  • 10. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
    Gort L, Coll MJ, Chabás A.
    Hum Mutat; 1999 May; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

  • 11. Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.
    Spire-Vayron de la Moureyre C, Debuysère H, Sabbagh N, Marez D, Vinner E, Chevalier ED, Lo Guidice JM, Broly F.
    Hum Mutat; 1998 May; 12(3):177-85. PubMed ID: 9711875
    [Abstract] [Full Text] [Related]

  • 12. Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.
    El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A.
    Hemoglobin; 2007 May; 31(1):63-9. PubMed ID: 17365006
    [Abstract] [Full Text] [Related]

  • 13. Analysis of specific gene mutations in the transforming growth factor-beta signal transduction pathway in human ovarian cancer.
    Wang D, Kanuma T, Mizunuma H, Takama F, Ibuki Y, Wake N, Mogi A, Shitara Y, Takenoshita S.
    Cancer Res; 2000 Aug 15; 60(16):4507-12. PubMed ID: 10969799
    [Abstract] [Full Text] [Related]

  • 14. Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis.
    Weidner J, Eigel A, Horst J, Köhnlein W.
    Hum Mutat; 1994 Aug 15; 4(1):55-6. PubMed ID: 7524914
    [Abstract] [Full Text] [Related]

  • 15. Inexpensive, rapid and convenient PCR-minigel SSCP protocol for polymorphisms and mutations analyses of LDL receptor gene.
    Pongrapeeporn KS, Thepsuriyanon P, Leowattana W, Ong-Ajyooth S, Kiartivich S, Yamwong P, Kasemsuk L, Kerdsaeng K, Nuchpramool W, Laungsuwan S, Amornrattana A.
    J Med Assoc Thai; 2001 Dec 15; 84 Suppl 3():S676-83. PubMed ID: 12002909
    [Abstract] [Full Text] [Related]

  • 16. Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
    Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2002 Jun 15; 43(6):1971-9. PubMed ID: 12037007
    [Abstract] [Full Text] [Related]

  • 17. Detection of ciprofloxacin resistance mutations in Campylobacter jejuni gyrA by nonradioisotopic single-strand conformation polymorphism and direct DNA sequencing.
    Charvalos E, Peteinaki E, Spyridaki I, Manetas S, Tselentis Y.
    J Clin Lab Anal; 1996 Jun 15; 10(3):129-33. PubMed ID: 8731499
    [Abstract] [Full Text] [Related]

  • 18. Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations.
    Wilton SD, Honeyman K, Fletcher S, Laing NG.
    Hum Mutat; 1998 Jun 15; 11(3):252-8. PubMed ID: 9521428
    [Abstract] [Full Text] [Related]

  • 19. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 15; 49(4):318-45. PubMed ID: 12553167
    [Abstract] [Full Text] [Related]

  • 20. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Nov 15; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

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