BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 10782022)

  • 1. A novel mutation (2409delT) in exon 14 of the factor VIII gene causes severe haemophilia A.
    Vidal F; Farssac E; Altisent C; Puig L; Gallardo D
    Hum Hered; 2000; 50(4):266-7. PubMed ID: 10782022
    [No Abstract]   [Full Text] [Related]  

  • 2. Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.
    Nakaya S; Liu ML; Thompson AR
    Br J Haematol; 2001 Dec; 115(4):977-82. PubMed ID: 11843836
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
    Maugard C; Tuffery S; Aguilar-Martinez P; Schved JF; Gris JC; Demaille J; Claustres M
    Hum Mutat; 1998; 11(1):18-22. PubMed ID: 9450898
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.
    Venceslá A; Fuentes-Prior P; Baena M; Quintana M; Baiget M; Tizzano EF
    Haemophilia; 2008 Sep; 14(5):1094-8. PubMed ID: 18665854
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A.
    Acquila M; Pasino M; Lanza T; Molinari AC; Caprino D; Bottini F; Bicocchi MP
    Haemophilia; 2004 Nov; 10(6):744-6. PubMed ID: 15569173
    [No Abstract]   [Full Text] [Related]  

  • 7. Novel human pathological mutations. Gene symbol: F8. Disease: Haemophilia A.
    Niazi G; Shaukat Z; Masood K; Hussain R
    Hum Genet; 2009 Aug; 126(2):332. PubMed ID: 19693997
    [No Abstract]   [Full Text] [Related]  

  • 8. Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.
    Inaba H; Fujimaki M; Kazazian HH; Antonarakis SE
    Hum Genet; 1989 Mar; 81(4):335-8. PubMed ID: 2495245
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.
    Chan V; Chan TK; Tong TM; Todd D
    Blood; 1989 Dec; 74(8):2688-91. PubMed ID: 2510835
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
    Tavassoli K; Eigel A; Dworniczak B; Valtseva E; Horst J
    Hum Mutat; 1998; Suppl 1():S260-2. PubMed ID: 9452104
    [No Abstract]   [Full Text] [Related]  

  • 12. Mutations in haemophilia A.
    Schwaab R; Oldenburg J; Tuddenham EG; Brackmann HH; Olek K
    Br J Haematol; 1993 Mar; 83(3):450-8. PubMed ID: 8485051
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
    Nafa K; Baudis M; Deburgrave N; Bardin JM; Sultan Y; Kaplan JC; Delpech M
    Hum Mutat; 1992; 1(1):77-8. PubMed ID: 1301194
    [No Abstract]   [Full Text] [Related]  

  • 16. Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
    Santacroce R; Leccese A; Trunzo R; Lassandro G; Giordano P; Ettorre C; Antoncecchi S; Cantori I; Dragani A; Belvini D; Salviato R; Margaglione M
    Thromb Res; 2015 May; 135(5):1031-4. PubMed ID: 25628142
    [No Abstract]   [Full Text] [Related]  

  • 17. F8 IVS9+5G>A mutation causes moderate haemophilia A.
    Li D; Chang W; Tang N; Shen N; Lu Y; Wang X; Hu Q
    Haemophilia; 2019 Mar; 25(2):e132-e135. PubMed ID: 30748051
    [No Abstract]   [Full Text] [Related]  

  • 18. Mutation profiling in haemophilia A.
    Oldenburg J
    Thromb Haemost; 2001 Apr; 85(4):577-9. PubMed ID: 11341488
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations.
    Nair PS; Shetty S; Kulkarni B; Ghosh K
    Clin Chim Acta; 2010 Dec; 411(23-24):2004-8. PubMed ID: 20800587
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.