BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 9218358)

  • 41. A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
    Humeny A; Bonk T; Becker K; Jafari-Boroujerdi M; Stephani U; Reuter K; Becker CM
    Eur J Hum Genet; 2002 Mar; 10(3):188-96. PubMed ID: 11973623
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications.
    Tost J; Gut IG
    Clin Biochem; 2005 Apr; 38(4):335-50. PubMed ID: 15766735
    [TBL] [Abstract][Full Text] [Related]  

  • 43. An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
    Richard MM; Erenberg G; Triggs-Raine BL
    Biochem Mol Med; 1995 Jun; 55(1):74-6. PubMed ID: 7551830
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
    Brewer KK
    Hum Mutat; 1993; 2(6):496-7. PubMed ID: 8111418
    [No Abstract]   [Full Text] [Related]  

  • 45. Primer system for single cell detection of double mutation for Tay-Sachs disease.
    Liu MC; Drury KC; Kipersztok S; Zheng W; Williams RS
    J Assist Reprod Genet; 2000 Feb; 17(2):121-6. PubMed ID: 10806593
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Characterization of covalently inhibited extracellular lipase from Streptomyces rimosus by matrix-assisted laser desorption/ionization time-of-flight and matrix-assisted laser desorption/ionization quadrupole ion trap reflectron time-of-flight mass spectrometry: localization of the active site serine.
    Zehl M; Lescić I; Abramić M; Rizzi A; Kojić-Prodić B; Allmaier G
    J Mass Spectrom; 2004 Dec; 39(12):1474-83. PubMed ID: 15578758
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Protein phosphorylation analysis by site-specific arginine-mimic labeling in gel electrophoresis and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
    Ahn YH; Ji ES; Kwon KH; Lee JY; Cho K; Kim JY; Kang HJ; Kim HG; Yoo JS
    Anal Biochem; 2007 Nov; 370(1):77-86. PubMed ID: 17659250
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mass-spectrometry DNA sequencing.
    Edwards JR; Ruparel H; Ju J
    Mutat Res; 2005 Jun; 573(1-2):3-12. PubMed ID: 15829234
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Identification of two-dimensionally separated human cerebrospinal fluid proteins by N-terminal sequencing, matrix-assisted laser desorption/ionization--mass spectrometry, nanoliquid chromatography-electrospray ionization-time of flight-mass spectrometry, and tandem mass spectrometry.
    Raymackers J; Daniels A; De Brabandere V; Missiaen C; Dauwe M; Verhaert P; Vanmechelen E; Meheus L
    Electrophoresis; 2000 Jun; 21(11):2266-83. PubMed ID: 10892737
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Sequencing of N-linked oligosaccharides directly from protein gels: in-gel deglycosylation followed by matrix-assisted laser desorption/ionization mass spectrometry and normal-phase high-performance liquid chromatography.
    Küster B; Wheeler SF; Hunter AP; Dwek RA; Harvey DJ
    Anal Biochem; 1997 Jul; 250(1):82-101. PubMed ID: 9234902
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Analysis of the saliva from patients with oral cancer by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
    Chen YC; Li TY; Tsai MF
    Rapid Commun Mass Spectrom; 2002; 16(5):364-9. PubMed ID: 11857719
    [TBL] [Abstract][Full Text] [Related]  

  • 52. At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
    Ozkara HA; Navon R
    Mol Genet Metab; 1998 Nov; 65(3):250-3. PubMed ID: 9851891
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
    Akli S; Chelly J; Mezard C; Gandy S; Kahn A; Poenaru L
    J Biol Chem; 1990 May; 265(13):7324-30. PubMed ID: 2139660
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Matrix-assisted laser desorption/ionization detection of polymerase chain reaction products by utilizing the 5'-3' exonuclease activity of Thermus aquaticus DNA polymerase.
    Isola NR; Liu Z; Allman SL; Taranenko NI; Kong Y; Chen CH
    Rapid Commun Mass Spectrom; 2003; 17(6):532-7. PubMed ID: 12621614
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MassARRAY).
    Oeth P; del Mistro G; Marnellos G; Shi T; van den Boom D
    Methods Mol Biol; 2009; 578():307-43. PubMed ID: 19768603
    [TBL] [Abstract][Full Text] [Related]  

  • 56. MALDI-TOF based mutation detection using tagged in vitro synthesized peptides.
    Garvin AM; Parker KC; Haff L
    Nat Biotechnol; 2000 Jan; 18(1):95-7. PubMed ID: 10625400
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
    Guetta E; Peleg L
    Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
    [TBL] [Abstract][Full Text] [Related]  

  • 58. High-resolution human papillomavirus genotyping by MALDI-TOF mass spectrometry.
    Hong SP; Shin SK; Lee EH; Kim EO; Ji SI; Chung HJ; Park SN; Yoo W; Folk WR; Kim SO
    Nat Protoc; 2008; 3(9):1476-84. PubMed ID: 18772875
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Rapid detection of six common Chinese G6PD mutations by MALDI-TOF MS.
    Zhao F; Ou XL; Xu CC; Cai GQ; Wu XY; Huang YM; Zhu WF; Jiang QC
    Blood Cells Mol Dis; 2004; 32(2):315-8. PubMed ID: 15003824
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
    Cao Z; Natowicz MR; Kaback MM; Lim-Steele JS; Prence EM; Brown D; Chabot T; Triggs-Raine BL
    Am J Hum Genet; 1993 Dec; 53(6):1198-205. PubMed ID: 7902672
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.