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  1. No Access

    Chapter and Conference Paper

    Species-Specific Variation of VKORC1-Activity and Resistance to Warfarin

    A. Fregin, S. Rost, C. R. Müller, J. Oldenburg in 36th Hemophilia Symposium Hamburg 2005 (2007)

  2. No Access

    Chapter and Conference Paper

    Expression Analysis of C1-Inhibitor Mutants Confirms Causality of Missense Mutations for Hereditary Angioedema

    Recombinant expression of mutated C1INH protein is a useful tool to characterize the role of individual amino acid residues for C1INH activity and hereditary angioedema.

    T. Förster, C. R. Müller, J. Oldenburg in 36th Hemophilia Symposium Hamburg 2005 (2007)

  3. No Access

    Chapter and Conference Paper

    Simultaneous Bilateral Total Knee Arthroplasty in Hemophilic Arthopathy

    This case report demonstrates that, in selected hemophilic patients, simultaneous bilateral knee replacement surgery can be performed with a good outcome without a significant increase in perioperative risk.Th...

    H. H. Eickhoff, F. W. Koch, G. Goldmann… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  4. No Access

    Chapter and Conference Paper

    On the Molecular Basis of Warfarin Resistance in Rats

    M. Hünerberg, S. Rost, A. Fregin, H. J. Pelz… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  5. No Access

    Chapter and Conference Paper

    Splice Site Mutations Effect on the F8 mRNA Splicing

    This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutation...

    O. El-Maarri, C. Klein, J. Junen, J. Schröder… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  6. No Access

    Chapter and Conference Paper

    Various Missense Mutations in the Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Cause Hereditary Coumarin Resistance

    Mutations in VKORC1 cause coumarin resistance and are also responsible for differing dosing requirements close to the upper therapeutic range. Here we present the data in 16 patients from 14 families revealing...

    C. Geisen, S. Rost, G. Spohn, A. Fregin… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  7. No Access

    Chapter and Conference Paper

    Molecular Genetic Analysis in Patients with Inherited Factor V Deficiency

    Identifying the molecular basis of mutations underlying this rare coagulation disorder will aid to obtain more insight into the mechanisms involved in the variable clinical phenotype of patients with FV defici...

    A. Pavlova, D. Delev, E. Seifried, J. Oldenburg in 36th Hemophilia Symposium Hamburg 2005 (2007)

  8. No Access

    Chapter and Conference Paper

    Alternative Therapy such as the Acupuncture of the Skull for Hemophilic Arthropathy

    T. A. Wallny, H. -H. Brackmann, G. Gunia… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  9. No Access

    Chapter and Conference Paper

    Expression of the γ-Glutamyl Carboxylase (GGCX) Containing the Arg485Pro Mutation Found in two Unrelated VKCFD1 Patients

    S. Rost, A. Fregin, V. Mutucumarana, D. Stafford… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  10. No Access

    Chapter and Conference Paper

    Establishment of an International Registry of Patients with Congenital FXIII Deficiency

    V. Ivaskevicius, R. Seitz, H. P. Kohler… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  11. No Access

    Chapter and Conference Paper

    Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique

    In conclusion MP/DHPLC technique can reliable identify hemophilia A female carriers, harboring FVIII gene copy number aberrations and it appears to be a powerful tool in genetic concealing of hemophilia families.

    A. Pavlova, J. Schröder, D. Delev, C. R. Müller… in 36th Hemophilia Symposium Hamburg 2005 (2007)

  12. No Access

    Chapter and Conference Paper

    Mutation Type Dependent Inhibitor Risk — a Single Center Study on 432 Patients with Severe Hemophilia A

    J. Oldenburg, J. Schröder, R. Schwaab, C. Müller-Reible… in 35th Hemophilia Symposium (2006)

  13. No Access

    Chapter and Conference Paper

    Mutation Analysis in Hereditary Angioedema Identifies Patients at Risk for Develo** Acute and Life Threatening Edema

    Routine molecular genetic analysis identified the causative mutations in most of the HAE families. It is very important in diagnosing HAE carriers in affected families prior to clinical manifestation thus allo...

    T. Förster, A. Kocot, J. Schröder, W. Kreuz, E. Aygören-Pürsün… in 35th Hemophilia Symposium (2006)

  14. No Access

    Chapter and Conference Paper

    Inhibitor Development after Continuous Infusion of Factor VIII: A Retrospective Study in Germany

    Ch. Von Auer, J. Oldenburg, M. Krause, W. Miesbach… in 35th Hemophilia Symposium (2006)

  15. No Access

    Chapter and Conference Paper

    γA1a82Gly Represents a Common Fibrinogen Chain Variant in Caucasians

    Screening of 200 blood donors for the presence of polymorphisms in 3 fibrinogen genes (FGA, FGB, FGG) revealed two individuals with a heterozygous missense mutation (c.323C > G, γAla82Gly) in the FGG gene. Thi...

    V. Ivaskevicius, E. Jusciute, M. Steffens, Ch. Geisen… in 35th Hemophilia Symposium (2006)

  16. No Access

    Chapter and Conference Paper

    Coagulation Factor XIII Mutation Profile: Update 2004

    V. Ivaskevicius, R. Seitz, H.-H. Brackmann, W. Eberl… in 35th Hemophilia Symposium (2006)

  17. No Access

    Chapter and Conference Paper

    Denaturing High Performance Liquid Chromatography Represents an Efficient Technique for Detection of Heterozygous Large Deletions in Antithrombin Gene

    The detection of large gene deletions and rearrangements in AT gene is essential in order to provide an appropriate genetic counseling and treatment in antithrombin deficient patients. We have developed a DHPL...

    A. Pavlova, O. El-Maarri, B. Luxembourg, E. Lindhoff-Last… in 35th Hemophilia Symposium (2006)

  18. No Access

    Chapter and Conference Paper

    Lack of Factor VIII Expression Represents a Novel Mechanism Leading to Hemophilia A

    O. El-Maarri, H. Singer, H.-H. Brackmann, J. Schröder, J. Graw… in 35th Hemophilia Symposium (2006)

  19. No Access

    Chapter and Conference Paper

    Inhibitors in PTP’S: A Retrospective Study in Germany

    Ch. von Auer, J. Oldenburg, M. Krause, W. Miesbach… in 35th Hemophilia Symposium (2006)

  20. No Access

    Chapter and Conference Paper

    A Novel Mutation (Asp36Tyr) in the Vitamin K Epoxide Reductase Complex Subunit 1 Gene (VKORC1) Causes Increased Phenprocoumon Requirement

    So far a number of rare genetic variations of VKORC1 have been found to contribute to a broad range of coumarin requirement. It would be of interest, whether future studies may also discover more common haplot...

    C. Geisen, G. Spohn, K. Sittinger, S. Rost, M. Watzka… in 35th Hemophilia Symposium (2006)

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