MALDI-TOF MS in prenatal genomics

Transfusion Medicine and Hemotherapy

Volumn 36, Issue 4, 2009, Pages 263-272

  Zhong, Xiao Yan ^a   Holzgreve, Wolfgang ^b  

^a UNIVERSITY WOMEN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Aneuploidy; hME; Homogenous MassEXTEND; MALDI TOF MS; Matrix assisted laser desorption ionization time of flight mass spectrometry; Monogenic disorder; Non invasive prenatal diagnosis; Prenatal diagnosis; SABER; Single allele base extension reaction

Indexed keywords

DNA;

ANEUPLOIDY; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BETA THALASSEMIA; BLOOD GROUP ABO SYSTEM; BLOOD GROUP KELL SYSTEM; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; DIAGNOSTIC ACCURACY; DNA METHYLATION; FETUS CELL; FLUORESCENCE ACTIVATED CELL SORTING; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; GENOMICS; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HUMAN; MATERNAL BLOOD; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NON INVASIVE MEASUREMENT; PREGNANT WOMAN; PRENATAL DIAGNOSIS; REVIEW; RHESUS INCOMPATIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY; X CHROMOSOME;

EID: 69549122434     PISSN: 16603796     EISSN: None     Source Type: Journal    
DOI: 10.1159/000223098     Document Type: Review

References (104)

1. Buckley F, Buckley SJ: Costs of prenatal genetic screening. Lancet 2008;372:1805.
2. Mathews,TJ, MacDorman MF: Infant mortality statistics from the 2005 period linked birth/infant death data set. Natl Vital Stat Rep 2008;57:1-32.
3. Kuppermann M, Norton ME: Prenatal testing guidelines: time for a new approach. Gynecol Obstet Invest 2005;60:6-10. (Pubitemid 41096233)
4. Schmid M, Drahonsky R, Fast-Hirsch C, Baumuhlner K, Husslein P, Blaicher W: Timing of referral for prenatal genetic counselling. Prenat Diagn 2009;29:156-159.
5. Anderson CL, Brown CE: Fetal chromosomal abnormalities: antenatal screening and diagnosis. Am Fam Physician 2009;79:117-123.
6. Driscoll DA, Gross SJ: First trimester diagnosis and screening for fetal aneuploidy. Genet Med, 2008;10:73-75.
7. South ST, Chen Z, Brothman AR: Genomic medicine in prenatal diagnosis. Clin Obstet Gynecol 2008;51:62-73.
8. Evans MI, Andriole S: Chorionic villus sampling and amniocentesis in 2008. Curr Opin Obstet Gynecol 2008;20:164-168.
9. Forabosco A, Percesepe A, Santucci S: Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur J Hum Genet 2009;DOI: 10.1038/ejhg.2008.265.
10. Cohen SM, Yagel S: Evaluating the rate and risk factors for fetal loss after chorionic villus sampling. Obstet Gynecol 2009;113:437; author reply 437.
11. Li DK, Karlberg K, Wi S, Norem C: Factors influencing women's acceptance of prenatal screening tests. Prenat Diagn 2008;28:1136-1143.
12. Odibo AO, Dicke JM, Gray DL, Oberle B, Stamilio DM, Macones GA, Crane JP: Evaluating the rate and risk factors for fetal loss after chorionic villus sampling. Obstet Gynecol 2008;112:813-819.
13. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP: Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience. Obstet Gynecol 2008;111:589-595.
14. Yukobowich E, Anteby EY, Cohen SM, Lavy Y, Granat M, Yagel S: Risk of fetal loss in twin pregnancies undergoing second trimester amniocentesis(1). Obstet Gynecol 2001;98:231-234.
15. van de Vathorst S, Verhagen AA, Wildschut HI, Wolf H, Zeeman GG, Lind J: Termination of pregnancy after the 20-week ultrasonographic examination: haste and caution (in Netherlandish). Ned Tijdschr Geneeskd 2008;152:2589-2591.
16. Zeeman GG, Verhagen AA, Lind J, van de Vathorst S, Wildschut HI, Wolf H: Assessment of late pregnancy terminations, 2004-2007 (in Netherlandish). Ned Tijdschr Geneeskd, 2008;152:2632-2635.
17. Geifman-Holtzman O, Ober Berman J: Prenatal diagnosis: update on invasive versus noninvasive fetal diagnostic testing from maternal blood. Expert Rev Mol Diagn 2008;8:727-751.
18. Odibo AO, Stamilio DM, Nelson DB, Sehdev HM, Macones GA: A cost-effectiveness analysis of prenatal screening strategies for Down syndrome. Obstet Gynecol 2005;106:562-568. (Pubitemid 41208790)
19. Pitukkijronnakorn S, Manonai J, Chittacharoen A: Doctors' attitudes towards invasive prenatal diagnosis. J Obstet Gynaecol Res 2009;35:73-77.
20. Sparkes R, Johnson JA, Langlois S, Wilson RD, Allen V, Blight C, Desilets V, Gagnon A, Johnson JA, Langlois S, Summers A, Wyatt P: New molecular techniques for the prenatal detection of chromosomal aneuploidy. J Obstet Gynaecol Can 2008;30:617-621, 622-627.
21. Hahn S, Zhong XY, Holzgreve W: Recent progress in non-invasive prenatal diagnosis. Semin Fetal Neonatal Med 2008;13:57-62. (Pubitemid 351215127)
22. Holzgreve W, Hahn S, Zhong XY, Lapaire O, Hosli I, Tercanli S, Mindy P: Genetic communication between fetus and mother: short- and long-term consequences. Am J Obstet Gynecol 2007;196:372-381. (Pubitemid 46497923)
23. Holzgreve W, Zhong, XY, Burk MR, Hahn S: Enrichment of fetal cells and free fetal DNA from maternal blood: an insight into the Basel experience. Early Pregnancy 2001;5:43-44.
24. Krabchi K, Gros-Louis F, Yan J, Bronsard M, Masse J, Forest JC, Drouin R: Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin Genet 2001;60:145-150. (Pubitemid 32791669)
25. Torricelli F, Pescucci C: Isolation of fetal cells from the maternal circulation: prospects for the non-invasive prenatal diagnosis. Clin Chem Lab Med 2001;39:494-500. (Pubitemid 32685399)
26. Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F: Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn 2002;22:609-615.
27. Troeger C, Zhong XY, Burgemeister R, Minderer S, Tercanli S, Holzgreve W, Hahn S: Approximately half of the erythroblasts in maternal blood are of fetal origin. Mol Hum Reprod 1999;5:1162-1165.
28. Babochkina T, Mergenthaler S, Dinges TM, Holzgreve W, Hahn S: Direct detection of fetal cells in maternal blood: a reappraisal using a combination of two different Y chromosome-specific FISH probes and a single X chromosome-specific probe. Arch Gynecol Obstet 2005;273:166-1119
29. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS: Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-487. (Pubitemid 27343304)
30. Zhong XY, Holzgreve W, Hahn S: Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts. Mol Hum Reprod 2002;8:864-870. (Pubitemid 35012475)
31. Zhong XY, Holzgreve W, Hahn S: Direct quantification of fetal cells in maternal blood by real-time PCR. Prenat Diagn 2006;26:850-854. (Pubitemid 44519661)
32. Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S: High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat Diagn 2000;20:838-841. (Pubitemid 30807835)
33. Zhong XY, Steinborn A, Sohn C, Holzgreve W, Hahn S: High levels of circulatory erythroblasts and cell-free DNA prior to intrauterine fetal death. Prenat Diagn 2006;26:1272-1273. (Pubitemid 46032347)
34. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM: Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64:218-224. (Pubitemid 30428975)
35. Zhong XY, Holzgreve W, Hahn S: Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma. Swiss Med Wkly 2001;131:70-74. (Pubitemid 32216319)
36. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y: First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 2001;21:1070-1074. (Pubitemid 34056191)
37. Daniels G, Finning K, Martin P, Massey E: Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 2009;29:101-107.
38. Benachi A, Costa JM: Non-invasive prenatal diagnosis of fetal aneuploidies. Lancet 2007;369:440-442. (Pubitemid 46231223)
39. Zhong XY, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S: Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn 2000;20:795-798. (Pubitemid 30807825)
40. Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S: Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005;293:843-849. (Pubitemid 40250368)
41. Chiu NH, Cantor CR: Mass spectrometry of nucleic acids. Clin Chem 1999;45:1578.
42. Nelson MR, Marnellos G, Kammerer S, Hoyal CR, Shi MM, Cantor CR, Braun A: Large-scale validation of single nucleotide polymorphisms in gene regions. Genome Res 2004;14:1664-1668. (Pubitemid 39193417)
43. Cullinan A, Cantor C: Sequenom, Inc. Pharmacogenomics 2008;9:1211-1215.
44. Li Y, Holzgreve W, Kiefer V, Hahn S: MALDI-TOF mass spectrometry compared with real-time PCR for detection of fetal cell-free DNA in maternal plasma. Clin Chem 2006;52:2311-2312. (Pubitemid 44925014)
45. McCullough RM, Cantor CR, Ding C: High-throughput alternative splicing quantification by primer extension and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Nucleic Acids Res 2005;33:e99.
46. Xiu-Cheng Fan A, Garritsen HS, Tarhouny SE, Morris M, Hahn S, Holzgreve W,Zhong XY: A rapid and accurate approach to identify single nucleotide polymorphisms of mitochondrial DNA using MALDI-TOF mass spectrometry. Clin Chem Lab Med 2008;46:299-305. (Pubitemid 351317771)
47. Garritsen HS, Fan AX, Bosse N, Hannig H, Kelsch R, Kroll H, Holzgreve W, Zhong XY: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry for genotyping of human platelet-specific antigens. Transfusion 2009;49:252-258.
48. Ding C: Maldi-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasma. Methods Mol Biol 2008;444:253-627.
49. Ding C, Chiu RW, Lau TK, Leung TN, Chan LC, Chan AY, Charoenkwan P, Ng IS, Law HY, Ma ES, Xu X, Wanapirak C, Sanguansermsri T, Liao C, Ai MA, Chui DH, Cantor CR, Lo YM: MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci U S A 2004;101:10762-10767. (Pubitemid 38955816)
50. Li Y, Wenzel F, Holzgreve W, Hahn S: Genotyping fetal paternally inherited SNPs by MALDI-TOF MS using cell-free fetal DNA in maternal plasma: influence of size fractionation. Electrophoresis 2006;27:3889-3896. (Pubitemid 44608408)
51. Ding C, Lo YM: MALDI-TOF mass spectrometry for quantitative, specific, and sensitive analysis of DNA and RNA. Ann N Y Acad Sci 2006;1075:282-287. (Pubitemid 44532795)
52. Kobayashi D, Satsuma S: Bone dysplasia with short limb (in Japanese). Clin Calcium 2008;18:1786-1791.
53. Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S: Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma - case report. Prenat Diagn 2004;24:896-898. (Pubitemid 39576805)
54. Li Y, Page-Christiaens GC, Gille JJ, Holzgreve W, Hahn S: Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn 2007;27:11-17. (Pubitemid 46144334)
55. Chiu RW, Lo YM: Recent developments in fetal DNA in maternal plasma. Ann N Y Acad Sci, 2004;1022:100-104.
56. Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo,YM: Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 2002;48:778-780.
57. Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM: Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002;360:998-1000.
58. Nikuei P, Hadavi V, Rajaei M, Saberi M, Hajizade F, Najmabadi H: Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan. Hemoglobin 2008;32:539-545.
59. Steinberg MH: Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches. ScientificWorldJournal 2008;8:1295-1324.
60. Steinberg MH: Genetic etiologies for phenotypic diversity in sickle cell anemia. ScientificWorldJournal 2009;9:46-67.
61. Rund D, Fucharoen S: Genetic modifiers in hemoglobinopathies. Curr Mol Med 2008;8:600-608.
62. Bonis PA: Clinical outcomes after hepatitis C infection from contaminated anti-D immune globulin. N Engl J Med 1999;341:763.
63. Patole S, Vijayakumar P, Jog S: Perinatal immunomodulation. J Matern Fetal Neonatal Med 2002;11:290-301.
64. Pilgrim H, Lloyd-Jones M, Rees A: Routine antenatal anti-D prophylaxis for RhD-negative women: a systematic review and economic evaluation. Health Technol Assess 2009;13:1-126.
65. Crombach G, Picard F, Beckmann M, Tutschek B, Bald R, Niederacher D: Fetal Rhesus D genotyping on amniocytes in alloimmunised pregnancies using fluorescence duplex polymerase chain reaction. Br J Obstet Gynaecol 1997;104:15-19. (Pubitemid 27019887)
66. Crombach G, Picard F, Beckmann MW, Niederacher D, Bender HG: Prenatal determination of fetal rhesus factor in amnionic cells using polymerase chain reaction (in German). Geburtshilfe Frauenheilkd 1995;55:577-579.
67. Moise KJ Jr: Management of rhesus alloimmunization in pregnancy. Obstet Gynecol 2008;112:164-176.
68. van der Schoot CE, Hahn S, Chitty LS: Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med 2008;13:63-68.
69. Avent ND: RHD genotyping from maternal plasma: guidelines and technical challenges. Methods Mol Biol 2008;444:185-201.
70. Grill S, Banzola I, Li Y, Rekhviashvili T, Legler TJ, Muller SP, Zhong XY, Hahn S, Holzgreve W: High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry. Arch Gynecol Obstet 2009;279:533-537.
71. Araujo F, Pereira C, Monteiro F, Henriques I, Meireles E, Lacerda P, Aleixo A, Rodrigues MJ, Celeste R, Cunha-Ribeiro LM: Blood group antigen profile predicted by molecular biology-use of real-time polymerase chain reaction to genotype important KEL, JK,RHD, and RHCE alleles. Immunohematology 2002;18:59-64.
72. Finning K, Martin P, Summers J, Daniels G: Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion 2007;47:2126-2133. (Pubitemid 47623982)
73. Moise KJ: Fetal anemia due to non-Rhesus-D redcell alloimmunization. Semin Fetal Neonatal Med, 2008;13:207-214.
74. Zupanska B, Nowaczek-Migas M, Michalewska B, Wielgos M, Orzinska A: Anti-K antibodies in pregnant women and genotyping of K antigen in foetuses(in Polish). Ginekol Pol, 2008;79:410-414.
75. Li Y, Finning K, Daniels G, Hahn S, Zhong X, Holzgreve W: Noninvasive genotyping fetal Kell blood group (KEL1) using cell-free fetal DNA in maternal plasma by MALDI-TOF mass spectrometry. Prenat Diagn 2008;28:203-208.
76. Lemnrau AG, Cardoso S, Creary LE, Brown C, Miretti M, Girdlestone J, Navarrete CV: Human platelet antigen typing of neonatal alloimmune thrombocytopenia patients using whole genome amplified DNA and a 5′-nuclease assay. Transfusion 2009;49:953-958.
77. Thude H, Gatzka E, Anders O, Barz D: Allele frequencies of human platelet antigen 1, 2, 3, and 5 systems in patients with chronic refractory autoimmune thrombocytopenia and in normal persons. Vox Sang 1999;77:149-153.
78. Curtis BR: Genotyping for human platelet alloantigen polymorphisms: applications in the diagnosis of alloimmune platelet disorders. Semin Thromb Hemost 2008;34:539-548.
79. Castro V, Kroll H, Origa AF, Falconi MA, Marques SB, Marba ST, Passini R Jr, Annichino-Bizzacchi JM, Costa FF, Santoso S, Arruda VR: A prospective study on the prevalence and risk factors for neonatal thrombocytopenia and platelet alloimmunization among 9332 unselected Brazilian newborns. Transfusion, 2007;47:59-66. (Pubitemid 46006310)
80. Glade-Bender J, McFarland JG, Kaplan C, Porcelijn L, Bussel JB: Anti-HPA-3A induces severe neonatal alloimmune thrombocytopenia. J Pediatr 2001;138:862-867. (Pubitemid 32545588)
81. Ahya R, Turner ML, Urbaniak SJ: Fetomaternal alloimmune thrombocytopenia. Transfus Apher Sci 2001;25:139-145.
82. Zhang KQ, Wang B, Wang ZL, Li Y: Analysis of human platelet antigen genotypic frequencies in Chinese population by PCR amplification with sequence specific primers. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2001;9:256-259.
83. Amexis G, Oeth P, Abel K, Ivshina A, Pelloquin F, Cantor CR, Braun A, Chumakov K: Quantitative mutant analysis of viral quasispecies by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci U S A 2001:98:12097-12102. (Pubitemid 32959833)
84. Jurinke C, Denissenko,MF, Oeth P, Ehrich M, van den Boom D, Cantor CR: A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY. Mutat Res 2005;573:83-95. (Pubitemid 40501973)
85. Nelson MR, Whitacre JL, Oeth P, Kammerer S, Brambati B, Tului L, Milunsky A, Braun A: Rapid diagnostic test for trisomy 21 and other aneuploidies using mass spectrometry. ACMG, Chicago, IL, USA, June, 3-5, 2005.
86. Tsui NB, Chiu RW, Ding C, El-Sheikhah A, Leung TN, Lau TK, Nicolaides KH, Lo YM: Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms. Clin Chem, 2005;51:2358-2362. (Pubitemid 41692583)
87. Huang DJ, Nelson MR, Zimmermann B, Dudarewicz L, Wenzel F, Spiegel R, Nagy B, Holzgreve W, Hahn S: Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry. Genet Med 2006;8:728-734. (Pubitemid 44772800)
88. Huang DJ, Nelson MR, Holzgreve W: Maldi-TOF mass spectrometry for trisomy detection. Methods Mol Biol 2008;444:123-132.
89. Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C: Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007;13:218-223. (Pubitemid 46245762)
90. Tang M, Lee M, Mohsenian F, Tao Shi T, Dragon B, Ding JH, Yang YF: Identification of RNA-SNP markers for noninvasive prenatal diagnosis (NIPD) of T18 and T13. Am J Obstet Gynecol 2008;199(supppl 1):S163.
91. Gupta AK, Rusterholz C, Huppertz B, Malek A, Schneider H, Holzgreve W, Hahn S: A comparative study of the effect of three different syncytiotrophoblast micro-particles preparations on endothelial cells. Placenta 2005;26:59-66. (Pubitemid 40123677)
92. Lau TW, Leung TN, Chan LY, Lau TK, Chan KC, Tam WH, Lo YM: Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem 2002;48:2141-2146. (Pubitemid 35397555)
93. Zhong XY, Holzgreve W, Hahn S: The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens Pregnancy 2002;21:77-83. (Pubitemid 34437747)
94. Zhong XY, Laivuori H, Livingston JC, Ylikorkala O, Sibai BM, Holzgreve W, Hahn S: Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol 2001;184:414-419. (Pubitemid 32206993)
95. Zhong XY, Wang Y, Chen S, Pan X, Zhu N, Hahn C, Huppertz B, Holzgreve W,Hahn S: Circulating fetal DNA in maternal plasma is increased in pregnancies at high altitude and is further enhanced by preeclampsia. Clin Chem, 2004;50:2403-2405. (Pubitemid 39552186)
96. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM: Maternal plasma fetal DNA as a marker for preterm labour. Lancet 1998;352:1904-1905. (Pubitemid 28561255)
97. Zhong XY, Hahn S, Holzgreve W: Prenatal identification of fetal genetic traits. Lancet 2001;357:310-311. (Pubitemid 32120874)
98. Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, Oudejans CB, Ding C, Lo YM: Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A 2005;102:14753-14758. (Pubitemid 41457128)
99. Cottrell SE, Laird PW: Sensitive detection of DNA methylation. Ann N Y Acad Sci 2003;983:120-130.
100. Laird PW: The power and the promise of DNA methylation markers. Nat Rev Cancer 2003;3:253-266.
101. Ehrich M, Nelson MR, Stanssens P, Zabeau M, Liloglou T, Xinarianos G, Cantor CR, Field JK, van den Boom D: Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc Natl Acad Sci U S A 2005;102:15785-15790. (Pubitemid 41552820)
102. Stanssens P, Zabeau M, Meersseman G, Remes G, Gansemans Y, Storm N, Hartmer R, Honisch C, Rodi CP, Bocker S, van den Boom, D: High-throughput MALDI-TOF discovery of genomic sequence polymorphisms. Genome Res, 2004;14:126-133. (Pubitemid 38088533)
103. Ehrich M, Turner J, Gibbs P, Lipton L, Giovanneti M, Cantor C, van den Boom D: Cytosine methylation profiling of cancer cell lines. Proc Natl Acad Sci U S A 2008;105:4844-4849. (Pubitemid 351753834)
104. Radpour R, Haghighi MM, Fan AX, Torbati PM, Hahn S, Holzgreve W, Zhong XY: High-throughput hacking of the methylation patterns in breast cancer by in vitro transcription and thymidine-specific cleavage mass array on MALDI-TOF Silico-Chip. Mol Cancer Res, 2008:6:1702-1709.