D
D. Delev
Researcher at University of Bonn
Publications - 13
Citations - 400
D. Delev is an academic researcher from University of Bonn. The author has contributed to research in topics: Mutation & Gene. The author has an hindex of 7, co-authored 13 publications receiving 344 citations.
Papers
More filters
Journal ArticleDOI
Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-alpha and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A.
A. Pavlova,D. Delev,Sébastien Lacroix-Desmazes,Rainer Schwaab,M. Mende,Rolf Fimmers,Jan Astermark,Johannes Oldenburg +7 more
TL;DR: The higher frequencies of the −308G>A polymorphism in TNF‐α and −1082A>G in IL‐10 in inhibitor patients confirmed the earlier published data.
Journal ArticleDOI
Molecular basis of antithrombin deficiency
Beate Luxembourg,D. Delev,Christof Geisen,Michael Spannagl,Manuela Krause,Wolfgang Miesbach,Christine Heller,Frauke Bergmann,Ursula Schmeink,Ralf Grossmann,Edelgard Lindhoff-Last,Erhard Seifried,Johannes Oldenburg,Anna Pavlova +13 more
TL;DR: Characterisation of the SERPINC1 mutation profile in large cohorts of patients may help to further elucidate the pathogenesis of AT deficiency and to establish genotype-phenotype associations.
Journal ArticleDOI
Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
TL;DR: The data show a correlation between FVIII:C and thrombin generation testing with a clear differentiation between patients with haemophilia and normal controls, and recommend that initial diagnosis of non-severe HA phenotypes should be based on results of both FV III:C1st and FVII:Cchr assays.
Journal ArticleDOI
Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography.
Anna Pavlova,Osman El-Maarri,Beate Luxembourg,Edelgard Lindhoff-Last,Lothar Kochhan,Hans-Dietrich Bruhn,D. Delev,Matthias Watzka,Erhard Seifried,Johannes Oldenburg +9 more
TL;DR: Using this approach, heterozygous deletions in four patients were identified: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene.
Journal ArticleDOI
Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.
TL;DR: A total of 42 genetic alterations, comprising 19 missense mutations, eight nonsense mutations, four small deletions and two splice site mutations, were identified by this study, and twenty‐three of these were novel sequence variations not previously described in the literature.