BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 15565648)

  • 1. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report.
    Li Y; Holzgreve W; Page-Christiaens GC; Gille JJ; Hahn S
    Prenat Diagn; 2004 Nov; 24(11):896-8. PubMed ID: 15565648
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay.
    Li Y; Page-Christiaens GC; Gille JJ; Holzgreve W; Hahn S
    Prenat Diagn; 2007 Jan; 27(1):11-7. PubMed ID: 17154237
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Rapid genetic prenatal diagnosis for achondroplasia].
    Zhu HY; Yang Y; Li J; Ru T; Hu YL
    Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cell-free DNA in maternal plasma: is it all a question of size?
    Li Y; Holzgreve W; DI Naro E; Vitucci A; Hahn S
    Ann N Y Acad Sci; 2006 Sep; 1075():81-7. PubMed ID: 17108195
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.
    Lanning RW; Brown CA
    Hum Mutat; 1997; 10(6):496-9. PubMed ID: 9401015
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometry.
    Li Y; Di Naro E; Vitucci A; Grill S; Zhong XY; Holzgreve W; Hahn S
    Fetal Diagn Ther; 2009; 25(2):246-9. PubMed ID: 19506384
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotyping fetal paternally inherited SNPs by MALDI-TOF MS using cell-free fetal DNA in maternal plasma: influence of size fractionation.
    Li Y; Wenzel F; Holzgreve W; Hahn S
    Electrophoresis; 2006 Oct; 27(19):3889-96. PubMed ID: 16972300
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Size fractionation of cell-free DNA in maternal plasma and its application in noninvasive detection of fetal single gene point mutations.
    Li Y; Holzgreve W; Hahn S
    Methods Mol Biol; 2008; 444():239-51. PubMed ID: 18425486
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
    Orhant L; Anselem O; Fradin M; Becker PH; Beugnet C; Deburgrave N; Tafuri G; Letourneur F; Goffinet F; Allach El Khattabi L; Leturcq F; Bienvenu T; Tsatsaris V; Nectoux J
    Prenat Diagn; 2016 May; 36(5):397-406. PubMed ID: 26850935
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.
    Lim JH; Kim MJ; Kim SY; Kim HO; Song MJ; Kim MH; Park SY; Yang JH; Ryu HM
    J Assist Reprod Genet; 2011 Feb; 28(2):167-72. PubMed ID: 20963478
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.
    Saito H; Sekizawa A; Morimoto T; Suzuki M; Yanaihara T
    Lancet; 2000 Sep; 356(9236):1170. PubMed ID: 11030304
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Prenatal diagnosis of achondroplasia].
    Huang X; Huang LH; Fang Q; Chen ML; Zhou Y; Cai J; Chen BJ; Chen JH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):427-9. PubMed ID: 18683143
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Feasibility study of using fetal DNA in maternal plasma for non-invasive prenatal diagnosis.
    Liu FM; Wang XY; Feng X; Wang W; Ye YX; Chen H
    Acta Obstet Gynecol Scand; 2007; 86(5):535-41. PubMed ID: 17464580
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Development of a PCR/LDR/capillary electrophoresis assay with potential for the detection of a beta-thalassemia fetal mutation in maternal plasma.
    Yi P; Chen Z; Yu L; Zheng Y; Liu G; Xie H; Zhou Y; Zheng X; Han J; Li L
    J Matern Fetal Neonatal Med; 2010 Aug; 23(8):920-7. PubMed ID: 20121392
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma.
    Li Y; Di Naro E; Vitucci A; Zimmermann B; Holzgreve W; Hahn S
    JAMA; 2005 Feb; 293(7):843-9. PubMed ID: 15713774
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal detection of beta-thalassemia CD17 (A-->T) mutation by polymerase chain reaction/ligase detection reaction/capillary electrophoresis for fetal DNA in maternal plasma--a case report.
    Yi P; Chen Z; Yu L; Zheng Y; Xie H; Zheng X; Liu Q; Han J; Li L
    Fetal Diagn Ther; 2010; 27(1):25-31. PubMed ID: 19955703
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients].
    Ni J; Lu G; Wang W; Chen F; Qin H; Wang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):205-8. PubMed ID: 12048679
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma.
    Meaney C; Norbury G
    Prenat Diagn; 2009 Dec; 29(13):1218-21. PubMed ID: 19844939
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.
    González-González MC; García-Hoyos M; Trujillo MJ; Rodríguez de Alba M; Lorda-Sánchez I; Díaz-Recasens J; Gallardo E; Ayuso C; Ramos C
    Prenat Diagn; 2002 Oct; 22(10):946-8. PubMed ID: 12378583
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
    Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA
    Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.