BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 1908096)

  • 1. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
    Higuchi M; Kazazian HH; Kasch L; Warren TC; McGinniss MJ; Phillips JA; Kasper C; Janco R; Antonarakis SE
    Proc Natl Acad Sci U S A; 1991 Aug; 88(16):7405-9. PubMed ID: 1908096
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.
    Kogan S; Gitschier J
    Proc Natl Acad Sci U S A; 1990 Mar; 87(6):2092-6. PubMed ID: 2107542
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.
    Higuchi M; Antonarakis SE; Kasch L; Oldenburg J; Economou-Petersen E; Olek K; Arai M; Inaba H; Kazazian HH
    Proc Natl Acad Sci U S A; 1991 Oct; 88(19):8307-11. PubMed ID: 1924291
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.
    Tavassoli K; Eigel A; Wilke K; Pollmann H; Horst J
    Hum Mutat; 1998; 12(5):301-3. PubMed ID: 9792405
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.
    Naylor JA; Green PM; Rizza CR; Giannelli F
    Hum Mol Genet; 1993 Jan; 2(1):11-7. PubMed ID: 8490618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of seven novel mutations of F8C by DHPLC.
    Frusconi S; Passerini I; Girolami F; Masieri M; Linari S; Longo G; Morfini M; Torricelli F
    Hum Mutat; 2002 Sep; 20(3):231-2. PubMed ID: 12203998
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
    Lavergne JM; Bahnak BR; Vidaud M; Laurian Y; Meyer D
    Nouv Rev Fr Hematol (1978); 1992; 34(1):85-91. PubMed ID: 1523102
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.
    Vidal F; Farssac E; Altisent C; Puig L; Gallardo D
    Thromb Haemost; 2001 Apr; 85(4):580-3. PubMed ID: 11341489
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.
    Möller-Morlang K; Tavassoli K; Eigel A; Pollmann H; Horst J
    Hum Mutat; 1999; 13(6):504. PubMed ID: 10408784
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.
    Pieneman WC; Reitsma PH; Briët E
    Thromb Haemost; 1993 May; 69(5):473-5. PubMed ID: 8322269
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular etiology of factor VIII deficiency in hemophilia A.
    Antonarakis SE; Kazazian HH; Tuddenham EG
    Hum Mutat; 1995; 5(1):1-22. PubMed ID: 7728145
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of genetic defects of hemophilia A in patients of Chinese origin.
    Lin SW; Lin SR; Shen MC
    Genomics; 1993 Dec; 18(3):496-504. PubMed ID: 8307558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Application studies on the gene diagnosis and carrier detection of hemophilia A by using polymerase chain reaction-conformation sensitive gel electrophoresis].
    Lillicrap D; He GP; Leggo J; Liu YS; Tong XH; Zhou GX; Luo LH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):393-9. PubMed ID: 20017302
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
    Casula L; Murru S; Pecorara M; Ristaldi MS; Restagno G; Mancuso G; Morfini M; De Biasi R; Baudo F; Carbonara A
    Blood; 1990 Feb; 75(3):662-70. PubMed ID: 2105106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection by denaturing gradient gel electrophoresis of an Arg1689Cys mutation in a Chinese patient with mild hemophilia A.
    Ruan C; Gu J; Lavergne JM; Meyer D
    Chin Med J (Engl); 1997 Feb; 110(2):96-9. PubMed ID: 9594277
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.
    Youssoufian H; Kazazian HH; Patel A; Aronis S; Tsiftis G; Hoyer LW; Antonarakis SE
    Genomics; 1988 Jan; 2(1):32-6. PubMed ID: 2838411
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations of the factor VIII gene in thai hemophilia A patients.
    Akkarapatumwong V; Oranwiroon S; Pung-amritt P; Treesucon A; Thanootarakul P; Veerakul G; Mahasandana C; Panyim S; Yenchitsomanus P
    Hum Mutat; 2000 Jan; 15(1):117-8. PubMed ID: 10612839
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetics of hemophilia A.
    Gitschier J
    Schweiz Med Wochenschr; 1989 Sep; 119(39):1329-31. PubMed ID: 2508218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.
    Faridi NJ; Husain N; Siddiqi MI; Kumar P; Bamezai RN
    Clin Appl Thromb Hemost; 2011 Aug; 17(4):358-61. PubMed ID: 20460344
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.
    Arruda VR; Pieneman WC; Reitsma PH; Deutz-Terlouw PP; Annichino-Bizzacchi JM; Briët E; Costa FF
    Blood; 1995 Oct; 86(8):3015-20. PubMed ID: 7579394
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.