R Schneppenheim

Summary

Affiliation: University Medical Center Hamburg-Eppendorf
Country: Germany

Publications

  1. doi request reprint The pathophysiology of von Willebrand disease: therapeutic implications
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center, Hamburg Eppendorf, Hamburg, Germany
    Thromb Res 128:S3-7. 2011
  2. ncbi request reprint A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3
    R Schneppenheim
    University Medical Center Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany
    J Thromb Haemost 5:722-8. 2007
  3. doi request reprint A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Blood 115:4894-901. 2010
  4. pmc Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistrasse 52, Hamburg, Germany
    Am J Hum Genet 86:279-84. 2010
  5. ncbi request reprint Response to DDAVP in children with von Willebrand disease type 2
    Reinhard Schneppenheim
    Department of Paediatric Haematology and Oncology, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Hamostaseologie 29:143-8. 2009
  6. ncbi request reprint The problem of novel FVIII missense mutations for haemophilia A genetic counseling
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Hamostaseologie 29:158-60. 2009
  7. ncbi request reprint [Inborn and acquired von Willebrand disease]
    R Schneppenheim
    Klinik für Pädiatrische Hämatologie und Onkologie, Universitatsklinikum Hamburg Eppendorf, Hamburg
    Hamostaseologie 28:312-9. 2008
  8. ncbi request reprint Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
    R Schneppenheim
    Pediatric Hematology and Oncology, University Children s Hospital, Hamburg, Germany
    Blood 97:2059-66. 2001
  9. doi request reprint Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
    U Budde
    Coagulation Laboratory, Hamburg, Germany
    J Thromb Haemost 6:762-71. 2008
  10. ncbi request reprint Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene
    J Rischewski
    Department of Paediatric Haematology and Oncology, University Childrens Hospital, Martinistr 52, D 20246, Hamburg, Germany
    J Biochem Biophys Methods 47:53-64. 2001

Detail Information

Publications38

  1. doi request reprint The pathophysiology of von Willebrand disease: therapeutic implications
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center, Hamburg Eppendorf, Hamburg, Germany
    Thromb Res 128:S3-7. 2011
    ..These genotype-phenotype correlations are improving our understanding of the pathophysiology of VWD and helping to provide a more accurate diagnosis and classification with important treatment-related implications...
  2. ncbi request reprint A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3
    R Schneppenheim
    University Medical Center Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany
    J Thromb Haemost 5:722-8. 2007
    ..Large deletions have been regarded as being a rare cause of VWD type 3. Complete gene deletions have only been identified in Italian and German patients to date. However, their extent and breakpoints have not been determined yet...
  3. doi request reprint A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Blood 115:4894-901. 2010
    ..Our study identified a distinct VWD subtype with a common molecular background which contributes significantly to the heterogeneous spectrum of VWD...
  4. pmc Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistrasse 52, Hamburg, Germany
    Am J Hum Genet 86:279-84. 2010
    ..SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established...
  5. ncbi request reprint Response to DDAVP in children with von Willebrand disease type 2
    Reinhard Schneppenheim
    Department of Paediatric Haematology and Oncology, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Hamostaseologie 29:143-8. 2009
    ....
  6. ncbi request reprint The problem of novel FVIII missense mutations for haemophilia A genetic counseling
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany
    Hamostaseologie 29:158-60. 2009
    ..Subsequently, we identified the novel causative mutation V197G in the family's index case which could be detected neither in the neonate nor in his mother...
  7. ncbi request reprint [Inborn and acquired von Willebrand disease]
    R Schneppenheim
    Klinik für Pädiatrische Hämatologie und Onkologie, Universitatsklinikum Hamburg Eppendorf, Hamburg
    Hamostaseologie 28:312-9. 2008
    ..Clinical relevant facts for the practioner on diagnosis and therapy of von Willebrand disease and von Willebrand syndrome are presented...
  8. ncbi request reprint Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
    R Schneppenheim
    Pediatric Hematology and Oncology, University Children s Hospital, Hamburg, Germany
    Blood 97:2059-66. 2001
    ..We also confirmed previous studies that found that disulfide bonding at the vWF amino-terminal is independent of dimerization at the vWF carboxy-terminal. (Blood. 2001;97:2059-2066)..
  9. doi request reprint Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD)
    U Budde
    Coagulation Laboratory, Hamburg, Germany
    J Thromb Haemost 6:762-71. 2008
    ..Accurate assessment of the quantity and quality of plasma VWF is difficult but is a prerequisite for correct classification...
  10. ncbi request reprint Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene
    J Rischewski
    Department of Paediatric Haematology and Oncology, University Childrens Hospital, Martinistr 52, D 20246, Hamburg, Germany
    J Biochem Biophys Methods 47:53-64. 2001
    ..DHPLC is a valuable tool for reproducible recognition of known sequence aberrations and screening for unknown mutations in the highly polymorphic FancA gene...
  11. ncbi request reprint A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy
    J R Rischewski
    University Children s Hospital, Hamburg, Germany
    Klin Padiatr 212:174-6. 2000
    ..We are currently screening a pediatric population with hematologic malignancies for mutations in the FANCA, FANCC and FANCG gene, and report here on siblings carrying a heterozygous frameshift mutation in the FANCC Gene...
  12. ncbi request reprint Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
    C Mühlhausen
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Inherit Metab Dis 28:945-50. 2005
    ..We interpret these findings as an acquired 'von Willebrand syndrome type I' in GSD Ia. The underlying metabolic mechanism and a potential role in the protection from vascular complication still needs to be evaluated...
  13. doi request reprint [Von Willebrand factor and ADAMTS13 balancing primary haemostasis]
    R Schneppenheim
    University Medical Center Hamburg Eppendorf, Department of Paediatric Haematology and Oncology, Hamburg, Germany
    Hamostaseologie 31:275-80. 2011
    ..Therefore VWD and TTP represent the opposite manifestations of VWF related disorders, tightly linked to each other...
  14. ncbi request reprint [Inborn and acquired von Willebrand disease]
    R Schneppenheim
    Klinik für Pädiatrische Hämatologie und Onkologie, Universitäts Klinikum Hamburg Eppendorf, Martinistr 52, 20246 Hamburg
    Hamostaseologie 25:367-75. 2005
    ..Clinical relevant facts for the practitioner on diagnosis and therapy of von Willebrand disease and von Willebrand syndrome are presented...
  15. ncbi request reprint [Molecular genetics of von Willebrand disease]
    R Schneppenheim
    Klinik für Pädiatrische Hämatologie und Onkologie, Universitäts Klinikum Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg
    Hamostaseologie 24:37-43. 2004
    ..Furthermore, mutation analysis and the conclusions drawn from such data can further help to understand the molecular mechanisms of VWF not only in bleeding but also in arterial thrombotic disease...
  16. ncbi request reprint [Thrombotic thrombocytopenic purpura in childhood]
    W A Hassenpflug
    Universitatsklinikum Hamburg Eppendorf, Zentrum für Frauen, Kinder und Jugendmedizin, Klinik für Pädiatrische Hämatologie und Onkologie, Martinistrasse 52, 20246 Hamburg
    Hamostaseologie 24:71-6. 2004
    ..The patients are frequently assumed to suffer from idiopathic thrombocytopenia (ITP) or Evans syndrome. Further efforts are necessary to accelerate correct diagnosis and to establish a risk-adapted prophylactic therapy...
  17. ncbi request reprint A molecular approach to the classification of von Willebrand disease
    R Schneppenheim
    Department of Paediatric Haematology and Oncology, University Hospital Hamburg, Martinistrasse 52, D-20246 Hamburg, Germany
    Best Pract Res Clin Haematol 14:281-98. 2001
    ....
  18. doi request reprint von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein
    R Schneppenheim
    Department of Paediatric Haematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Thromb Haemost 9:209-15. 2011
    ..This article focuses on the phenotype/genotype relationship in VWD and the context of VWD types and subtypes with particular VWF domains...
  19. ncbi request reprint [Classification of von Willebrand disease]
    R Schneppenheim
    Klinik für Pädiatrische Hämatologie und Onkologie, Universitäts Klinikum Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg
    Hamostaseologie 24:27-36. 2004
    ..The reproducible correlation between certain phenotypes and particular mutations can now be used for a molecular approach towards a soundly based classification of VWD, equally useful for the clinician and for research requirements...
  20. ncbi request reprint Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia
    U zur Stadt
    Department of Pediatric Hematology and Oncology, University Children s Hospital, Martinistrasse 52, D 20246 Hamburg, Germany
    Clin Chem 47:2003-11. 2001
    ..We describe a novel, HPLC-based method for discrimination among polyclonal, oligoclonal, and/or clonal T-cell receptor gamma (TCR-gamma) rearrangements in samples from children with newly diagnosed acute lymphoblastic leukemia...
  21. ncbi request reprint Genetic heterogeneity of severe von Willebrand disease type III in the German population
    R Schneppenheim
    Universitäts Kinderklinik Kiel, Germany
    Hum Genet 94:640-52. 1994
    ....
  22. pmc von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure
    L Holmberg
    Roon Research Laboratory for Arteriosclerosis and Thrombosis, Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037
    J Clin Invest 91:2169-77. 1993
    ..These results define a new structural element affecting the affinity of von Willebrand factor for glycoprotein Ib and establish the molecular basis of a variant form of von Willebrand disease...
  23. pmc Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease
    R Schneppenheim
    Universitäts Kinderklinik, Kiel, Germany
    Proc Natl Acad Sci U S A 93:3581-6. 1996
    ....
  24. ncbi request reprint Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD)
    A Tosetto
    San Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 5:715-21. 2007
    ..However, quantitative analysis of the importance of VWF antigen (VWF:Ag) and ristocetin cofactor activity (VWF:RCo) levels in the diagnosis is lacking...
  25. ncbi request reprint Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
    J Eikenboom
    Department of Hematology, Hemostasis and Thrombosis Research Center, Leiden University Medical Center, Leiden, The Netherlands
    J Thromb Haemost 4:774-82. 2006
    ..The diagnosis of type 1 VWD is difficult because of clinical and laboratory variability. Furthermore, inconsistency of linkage between type 1 VWD and the VWF locus has been reported...
  26. ncbi request reprint Identification of a candidate missense mutation in a family with von Willebrand disease type IIC
    R Schneppenheim
    Universitäts Kinderklinik Kiel, Germany
    Hum Genet 95:681-6. 1995
    ..The mutation could influence one of the presumed active centers for the suspected multimerizing enzymatic activity of pro-VWF localized in the D1 and D2 domain, which corresponds to exon 5 and exon 14 of the VWF gene...
  27. ncbi request reprint A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)
    A Tosetto
    San Bortolo Hospital, Vicenza, Italy
    J Thromb Haemost 4:766-73. 2006
    ..A quantitative description of bleeding symptoms in type 1 von Willebrand disease (VWD) has never been reported...
  28. ncbi request reprint Gene conversions are a common cause of von Willebrand disease
    P K Gupta
    Department of Transfusion Medicine, Armed Forces Medical College, Pune, India
    Br J Haematol 130:752-8. 2005
    ..The location of the gene conversions, their extension and their occurrence as homozygous, compound heterozygous or heterozygous mutations determines the resulting phenotype...
  29. ncbi request reprint [Diagnostic standards of von Willebrand disease]
    U Budde
    Coagulation Laboratory, Lab Association Prof Arndt and Partners, Lademannbogen 61 63, 22339 Hamburg, Germany
    Hamostaseologie 24:12-26. 2004
    ....
  30. ncbi request reprint [Diagnosis of thrombotic thrombocytopenic purpura]
    U Budde
    Coagulation Laboratory Lab Association Prof Arndt and Partners, Lademannbogen 61 63, 22339 Hamburg, Germany
    Hamostaseologie 24:65-70. 2004
    ..Molecular genetics are established methods in the differentiation between inherited and acquired forms of TTP in those cases without autoantibodies against VWF-CP...
  31. ncbi request reprint [2% Haemophilia A patients without mutation in the FVIII gene]
    C Uen
    GSF Forschungszentrum für Umwelt und Gesundheit, Institut für Entwicklungsgenetik, Neuherberg
    Hamostaseologie 23:1-5. 2003
    ..One of them codes for the von Willebrand factor (vWF). We confirmed in two of our cases mutations in the vWF gene...
  32. ncbi request reprint Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
    R Santer
    Department of Paediatrics, University of Kiel, Germany uni kiel de
    Nat Genet 17:324-6. 1997
    ..Because all detected mutations (delta T446-449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS...
  33. ncbi request reprint Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
    R Santer
    Dept of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Mutat 16:177. 2000
    ..Hum Mutat 16:177, 2000...
  34. ncbi request reprint Quantification and facilitated comparison of von Willebrand factor multimer patterns by densitometry
    J D Studt
    Department of Haematology and Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, D-30625 Hannover, Germany
    Am J Clin Pathol 116:567-74. 2001
    ..It could be a valuable tool offering reproducible quantification and additional visualization of normal and pathologic vWF multimer patterns, facilitating their comparison and contributing to a standardization of vWF multimer analysis...
  35. doi request reprint Genetic defects in von Willebrand disease type 3 in Indian and Greek patients
    P K Gupta
    Department of Transfusion Medicine, Haematology Section, Armed Forces Medical College, Pune 411040, India
    Blood Cells Mol Dis 41:219-22. 2008
    ..Many different molecular defects have been reported to date. We tried to assess the molecular background of Indian and Greek patients with VWD type 3 by doing a complete VWF gene screen in all index patients...
  36. ncbi request reprint Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
    K Kentouche
    Department of Paediatrics, Friedrich Schiller University, Jena, Germany
    Acta Paediatr 91:1056-9. 2002
    ..Conclusion: TTP in childhood may be mild and oligosymptomatic. Determination of VWF-CP activity is helpful in the differential diagnosis of thrombocytopenia...
  37. ncbi request reprint Homozygous Factor V Leiden mutation in sickle cell anaemia
    U Kordes
    Br J Haematol 116:236. 2002
  38. ncbi request reprint Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
    J E Sadler
    Howard Hughes Medical Institute, Washington University, St Louis, MO 63110, USA
    J Thromb Haemost 4:2103-14. 2006
    ..The clinical significance of this heterogeneity is under investigation, which may support further subdivision of VWD type 1 or type 2A in the future...