121 Result(s)

Chapter and Conference Paper

Establishment of an International Registry of Patients with Congenital FXIII Deficiency

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

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 36^th Hemophilia Symposium Hamburg 2005 (2007)

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 35^th Hemophilia Symposium (2006)

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 35^th Hemophilia Symposium (2006)

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 35^th Hemophilia Symposium (2006)

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 35^th Hemophilia Symposium (2006)

Chapter and Conference Paper

Coagulation Factor XIII Mutation Profile: Update 2004

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

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 35^th Hemophilia Symposium (2006)

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 35^th Hemophilia Symposium (2006)

Chapter and Conference Paper

Inhibitors in PTP’S: A Retrospective Study in Germany

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

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 35^th Hemophilia Symposium (2006)

Chapter and Conference Paper

Site-Directed Mutagenesis of VKORC1, the Target Protein of Coumarin-Type Anticoagulants

Natural and site-directed mutagenesis experiments are important tools for studying the role of individual amino acids of the VKORCl protein and their involvement in the binding sites for the substrate vitamin ...

S. Rost, A. Fregin, M. Hünerberg, C. R. Müller, J. Oldenburg in 35^th Hemophilia Symposium (2006)

Chapter and Conference Paper

Lithuanian Hemophilia Register: Update 2003

Dr. V. Ivaskevicius, R. Jurgutis, M. Jurgutis, L. Malciute… in 34^th Hemophilia Symposium (2005)

Chapter and Conference Paper

Bleeding Symptoms in Carriers of Hemophilia A — Association to the Factor VIII Gene Mutation?

Hemophilia A is an X-linked recessive bleeding disorder of variable severity that is caused by a deficiency of coagulation factor VIII (FVIII). The disease results from mutations in the FVIII gene which are he...

W. Miesbach, Th. Vigh, I. Stier-Brück, J. Oldenburg… in 33^rd Hemophilia Symposium (2004)

Chapter and Conference Paper

FISH for Carrier Detection of large Deletions in the Factor VIII Gene

Hemophilia A is a common congenital bleeding disorder caused by a deficiency of coagulation factor VIII. The disease is inherited in a X-linked recessive pattern with an estimated incidence of 1 per 5000–10000...

T. Förster, M. Guttenbach, C. R. Müller, J. Oldenburg in 33^rd Hemophilia Symposium (2004)

Chapter and Conference Paper

First Case of Compound Heterozygosity in the Gamma-Glutamyl Carboxylase Gene Causing Combined Deficiency of all Vitamin K-Dependent Blood Coagulation Factors

Hereditary combined deficiency of all vitamin K-dependent coagulation factors (FMFD, Familial Multiple Coagulation Factor Deficiency) is a very rare bleeding disorder, with only 14 cases described as yet [1]. The...

S. Rost, A. Fregin, D. Koch, M. Compes, W. Wolz, C. R. Müller… in 33^rd Hemophilia Symposium (2004)

Chapter and Conference Paper

Analysis of Factor VIII RNA from Hemophilia A Patients with no Detectable Mutation in the Coding Regions

Here on we report on the detailed RNA analysis of the factor VIII cDNA from patients that have either putative splicing site mutations or patients with no previously detected DNA mutations by mutation screenin...

O. El-Maarri, U. Herbiniaux, M. Watzka, J. Graw, C. Uen… in 33^rd Hemophilia Symposium (2004)

Chapter and Conference Paper

Homozygosity Map** of a Second Gene Locus for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors (FMFD) to Chromosome 16

Familial multiple coagulation factor deficiency (FMFD) of factors II, VII, IX, X, protein C and protein S is a very rare bleeding disorder with autosomal recessive inheritance [1]. The disease may result either f...

A. Fregin, S. Rost, W. Wolz, A. Krebsova, C. R. Muller… in 33^rd Hemophilia Symposium (2004)

Chapter and Conference Paper

A Retrospective Study on the Development of Inhibitors after Continuous Infusion of Factor VIII

The continuous infusion (CI) of coagulation factor-VIII (FVIII) concentrates has been used since the early 1990s. Compared to the traditional way of factor application by episodic bolus infusions (BI) the CI had ...

Ch. v. Auer, J. Oldenburg, M. v. Depka Prodzinski… in 33^rd Hemophilia Symposium (2004)