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 *

119 related articles for article (PubMed ID: 2372508)

  • 1. A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.
    Bottema CD; Koeberl DD; Ketterling RP; Bowie EJ; Taylor SA; Lillicrap D; Shapiro A; Gilchrist G; Sommer SS
    Br J Haematol; 1990 Jun; 75(2):212-6. PubMed ID: 2372508
    [TBL] [Abstract][Full Text] [Related]  

  • 2. T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
    Ketterling RP; Bottema CD; Koeberl DD; Ii S; Sommer SS
    Hum Genet; 1991 Jul; 87(3):333-7. PubMed ID: 1864609
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing.
    Ludwig M; Brackmann HH; Olek K
    Klin Wochenschr; 1991 Mar; 69(5):196-200. PubMed ID: 1674559
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Direct carrier testing in 14 families with haemophilia B.
    Bottema CD; Koeberl DD; Sommer SS
    Lancet; 1989 Sep; 2(8662):526-9. PubMed ID: 2570235
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
    Aguilar-Martinez P; Romey MC; Schved JF; Gris JC; Demaille J; Claustres M
    Hum Genet; 1994 Sep; 94(3):287-90. PubMed ID: 8076946
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Direct carrier testing of haemophilia B by SSCP.
    Martinez PA; Romey MC; Schved JF; Gris JC; Demaille J; Claustres M
    Clin Lab Haematol; 1994 Mar; 16(1):15-20. PubMed ID: 7913672
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).
    Montandon AJ; Green PM; Bentley DR; Ljung R; Nilsson IM; Giannelli F
    Hum Genet; 1990 Jul; 85(2):200-4. PubMed ID: 2370049
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An MseI RFLP in the 5' flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations.
    Winship PR; Nichols CE; Chuansumrit A; Peake IR
    Br J Haematol; 1993 May; 84(1):101-5. PubMed ID: 8101718
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Determination of factor IX allotypes for carrier identification in haemophilia B.
    Wallmark A; Ljung R; Nilsson IM
    Br J Haematol; 1987 Dec; 67(4):427-32. PubMed ID: 3426960
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Haplotype analysis of identical factor IX mutants using PCR.
    Green PM; Montandon AJ; Ljung R; Nilsson IM; Giannelli F
    Thromb Haemost; 1992 Jan; 67(1):66-9. PubMed ID: 1615486
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Carrier testing and prenatal diagnosis of haemophilia B by SSCP in an Iranian family.
    Karimipoor M; Zeinali S; Lak M; Safaee R
    Haemophilia; 2003 Jan; 9(1):116-8. PubMed ID: 12558788
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.
    Hinks JL; Winship PR; Makris M; Preston FE; Peake IR; Goodeve AC
    Br J Haematol; 1999 Mar; 104(4):915-8. PubMed ID: 10192459
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism.
    Smith KJ; Thompson AR; McMullen BA; Frazier D; Lin SW; Stafford D; Kisiel W; Thibodeau SN; Chen SH; Smith LF
    Blood; 1987 Oct; 70(4):1006-13. PubMed ID: 3651597
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter.
    Stowell KM; Figueiredo MS; Brownlee GG; Jones P; Bolton-Maggs PH
    Br J Haematol; 1993 Sep; 85(1):188-90. PubMed ID: 8251390
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish origin.
    Geraghty M; Sarsfield P; Temperley I; Humphries P
    Ir J Med Sci; 1986 Dec; 155(12):419-24. PubMed ID: 3818253
    [No Abstract]   [Full Text] [Related]  

  • 16. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).
    Giannelli F; Anson DS; Choo KH; Rees DJ; Winship PR; Ferrari N; Rizza CR; Brownlee GG
    Lancet; 1984 Feb; 1(8371):239-41. PubMed ID: 6142992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency).
    Peake IR; Furlong BL; Bloom AL
    Lancet; 1984 Feb; 1(8371):242-3. PubMed ID: 6142993
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
    Winship PR; Rees DJ; Alkan M
    Lancet; 1989 Mar; 1(8639):631-4. PubMed ID: 2564457
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.
    Chen SH; Schoof JM; Weinmann AF; Thompson AR
    Br J Haematol; 1995 Feb; 89(2):409-12. PubMed ID: 7873393
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.
    Matsushita T; Tanimoto M; Yamamoto K; Sugiura I; Takamatsu J; Kamiya T; Saito H
    Thromb Res; 1991 Aug; 63(3):355-61. PubMed ID: 1683496
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.