These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

70 related articles for article (PubMed ID: 7477013)

  • 21. NF1 mutation analysis using a combined heteroduplex/SSCP approach.
    Abernathy CR; Rasmussen SA; Stalker HJ; Zori R; Driscoll DJ; Williams CA; Kousseff BG; Wallace MR
    Hum Mutat; 1997; 9(6):548-54. PubMed ID: 9195229
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.
    Chou LS; Lyon E; Wittwer CT
    Am J Clin Pathol; 2005 Sep; 124(3):330-8. PubMed ID: 16191501
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
    Furihata K; Drousiotou A; Hara Y; Christopoulos G; Stylianidou G; Anastasiadou V; Ueno I; Ioannou P
    Hum Mutat; 1999; 13(1):38-43. PubMed ID: 9888387
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region.
    Kleiman FE; Ramírez AO; Dodelson de Kremer R; Gravel RA; Argaraña CE
    Hum Mutat; 1998; 12(5):320-9. PubMed ID: 9792408
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).
    Rossetti S; Englisch S; Bresin E; Pignatti PF; Turco AE
    Mol Cell Probes; 1997 Apr; 11(2):155-60. PubMed ID: 9160331
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
    Zhang ZX; Wakamatsu N; Mules EH; Thomas GH; Gravel RA
    Hum Mol Genet; 1994 Jan; 3(1):139-45. PubMed ID: 8162015
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).
    Muldoon LL; Neuwelt EA; Pagel MA; Weiss DL
    Am J Pathol; 1994 May; 144(5):1109-18. PubMed ID: 8178934
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.
    Brown CA; McInnes B; de Kremer RD; Mahuran DJ
    Biochim Biophys Acta; 1992 Oct; 1180(1):91-8. PubMed ID: 1390948
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
    Kleiman FE; de Kremer RD; de Ramirez AO; Gravel RA; Argaraña CE
    Hum Genet; 1994 Sep; 94(3):279-82. PubMed ID: 8076944
    [TBL] [Abstract][Full Text] [Related]  

  • 30. An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
    Mackay K; Byers PH; Dalgleish R
    Hum Mol Genet; 1993 Aug; 2(8):1155-60. PubMed ID: 7691343
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Nonradioisotopic PCR heteroduplex analysis: a rapid, reliable method of detecting minor gene mutations.
    Xing Y; Wells RL; Elkind MM
    Biotechniques; 1996 Aug; 21(2):186-7. PubMed ID: 8862793
    [No Abstract]   [Full Text] [Related]  

  • 32. A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
    Gomez-Lira M; Sangalli A; Mottes M; Perusi C; Pignatti PF; Rizzuto N; Salviati A
    Hum Genet; 1995 Oct; 96(4):417-22. PubMed ID: 7557963
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Polymerase chain reaction heteroduplex polymorphism analysis by entangled solution capillary electrophoresis.
    Cheng J; Kasuga T; Mitchelson KR; Lightly ER; Watson ND; Martin WJ; Atkinson D
    J Chromatogr A; 1994 Aug; 677(1):169-77. PubMed ID: 7951979
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Eleven novel mutations in the NF2 tumour suppressor gene.
    Bourn D; Evans G; Mason S; Tekes S; Trueman L; Strachan T
    Hum Genet; 1995 May; 95(5):572-4. PubMed ID: 7759081
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction.
    Ganguly A; Prockop DJ
    Nucleic Acids Res; 1990 Jul; 18(13):3933-9. PubMed ID: 2374715
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A sensitive method for detection of mutations--a PCR-based RNase protection assay.
    Murthy KK; Shen SH; Banville D
    DNA Cell Biol; 1995 Jan; 14(1):87-94. PubMed ID: 7832996
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutation screening by a combination of biotin-SSCP and direct sequencing.
    Virdi AS; Loughlin JA; Irven CM; Goodship J; Sykes BC
    Hum Genet; 1994 Mar; 93(3):287-90. PubMed ID: 8125479
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Competitive RT-PCR to quantify CFTR mRNA in human endometrium.
    Mularoni A; Adessi GL; Arbez-Gindre F; Agnani G; Nicollier M
    Clin Chem; 1996 Nov; 42(11):1765-9. PubMed ID: 8906074
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
    Zhang ZX; Wakamatsu N; Akerman BR; Mules EH; Thomas GH; Gravel RA
    Hum Mol Genet; 1995 Apr; 4(4):777-80. PubMed ID: 7633435
    [No Abstract]   [Full Text] [Related]  

  • 40. Mutation screening of interferon-gamma (IFNgamma) as a candidate gene for asthma.
    Hayden C; Pereira E; Rye P; Palmer L; Gibson N; Palenque M; Hagel I; Lynch N; Goldblatt J; Lesouëf P
    Clin Exp Allergy; 1997 Dec; 27(12):1412-6. PubMed ID: 9433936
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 4.