Udo Zur Stadt

Summary

Affiliation: University of Hamburg
Country: Germany

Publications

  1. ncbi request reprint Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura
    Minola Manea
    Department of Pediatrics, Clinical Sciences Lund, Lund University, Lund, Sweden
    Br J Haematol 138:651-62. 2007
  2. pmc Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis
    Sebastian Fn Bode
    Centre of Chronic Immunodeficiency, University Medical Center Freiburg, D 79106 Freiburg, Germany
    Arthritis Res Ther 14:213. 2012
  3. ncbi request reprint [Minimal residual disease analysis in acute lymphoblastic leukemia of childhood within the framework of COALL Study: results of an induction therapy without asparaginase]
    U zur Stadt
    Abt für Pädiatrische Hämatologie und Onkologie, Universitätskinderklinik Eppendorf, Hamburg
    Klin Padiatr 212:169-73. 2000
  4. ncbi request reprint Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 27:62-8. 2006
  5. ncbi request reprint DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, Children s Hospital, University of Hamburg, Hamburg, Germany
    Int J Oncol 27:547-52. 2005
  6. ncbi request reprint Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual disease moni
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, Children s Hospital, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany
    J Chromatogr B Analyt Technol Biomed Life Sci 792:287-98. 2003
  7. 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
  8. doi request reprint Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor
    Uwe Kordes
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Genes Chromosomes Cancer 49:176-81. 2010
  9. doi request reprint Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors
    Lukas Roth
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Thromb Haemost 105:279-84. 2011
  10. 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

Detail Information

Publications43

  1. ncbi request reprint Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura
    Minola Manea
    Department of Pediatrics, Clinical Sciences Lund, Lund University, Lund, Sweden
    Br J Haematol 138:651-62. 2007
    ..Podocyte-derived ADAMTS13 may offer local protection in the high-shear microcirculation of the glomerulus. The mutations in the two TTP patients studied enabled protein expression in the podocytes but affected protease secretion...
  2. pmc Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis
    Sebastian Fn Bode
    Centre of Chronic Immunodeficiency, University Medical Center Freiburg, D 79106 Freiburg, Germany
    Arthritis Res Ther 14:213. 2012
    ..Current research aims at a better understanding of disease pathogenesis and evaluation of more targeted approaches to therapy, including anti-cytokine antibodies and gene therapy...
  3. ncbi request reprint [Minimal residual disease analysis in acute lymphoblastic leukemia of childhood within the framework of COALL Study: results of an induction therapy without asparaginase]
    U zur Stadt
    Abt für Pädiatrische Hämatologie und Onkologie, Universitätskinderklinik Eppendorf, Hamburg
    Klin Padiatr 212:169-73. 2000
    ..At the end of induction therapy, bone marrow was obtained for cytomorphologic and molecular analysis...
  4. ncbi request reprint Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 27:62-8. 2006
    ..Our findings demonstrate extensive genetic and allelic heterogeneity in FHL and delineate an approach for functionally characterizing missense mutations in RAB27A and UNC13D...
  5. ncbi request reprint DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, Children s Hospital, University of Hamburg, Hamburg, Germany
    Int J Oncol 27:547-52. 2005
    ..The target identification process prior to routine MRD analysis will be shortened due to a simplified screening and sequencing strategy...
  6. ncbi request reprint Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual disease moni
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, Children s Hospital, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany
    J Chromatogr B Analyt Technol Biomed Life Sci 792:287-98. 2003
    ..Fractions were air dried and subsequently sequenced directly. The specificity of the observed patient specific sequences was tested via real time quantitative PCR on a LightCycler system...
  7. 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...
  8. doi request reprint Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor
    Uwe Kordes
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Genes Chromosomes Cancer 49:176-81. 2010
    ..001). Patients with germline mutation of SMARCB1 manifest at an early age and have a very high risk for progression which has to be considered with respect to the outcome of further treatment studies...
  9. doi request reprint Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors
    Lukas Roth
    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Thromb Haemost 105:279-84. 2011
    ..The exact identification of the deletion breakpoints provides a reliable diagnostic tool for carrier identification in affected families by means of a deletion-specific PCR...
  10. 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
    ....
  11. ncbi request reprint A common origin of the 4143insA ADAMTS13 mutation
    Reinhard Schneppenheim
    University Medical Center Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Martinistrasse 52, D 20246 Hamburg, Germany
    Thromb Haemost 96:3-6. 2006
    ..We conclude that 4143insA has a common genetic background and is frequent among patients with hereditary ADAMTS13 deficiency in Northern and Central European countries...
  12. doi request reprint Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency
    Uwe Kordes
    Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany
    Pediatr Blood Cancer 54:758-60. 2010
    ..A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease...
  13. 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...
  14. doi request reprint Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients
    Kai Lehmberg
    Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
    Ann Hematol 92:387-94. 2013
    ..In conclusion, the ability of exogenous rhEPO to increase hemoglobin level appears to be impaired in IRIDA...
  15. ncbi request reprint Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
    Udo Zur Stadt
    Department of Pediatric Hematology and Oncology, Children s Hospital, University of Hamburg, Germany
    Hum Mol Genet 14:827-34. 2005
    ..As both STX11 and UNC13D are involved in vesicle trafficking and membrane fusion, we conclude that, besides mutations in perforin 1, defects in the endocytotic or the exocytotic pathway may be a common mechanism in FHL...
  16. ncbi request reprint Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis
    Viola Wetzstein
    University Medical Center Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Martinistrasse 52, D 20246 Hamburg, Germany
    Haematologica 91:ECR60. 2006
    ..We conclude that CNS bleeding in term neonates with severe VWD type 3 is a rare event that requires additional risk factors for manifestation. Therefore, the amendment of current guidelines does not seem to be mandatory...
  17. ncbi request reprint Molecular analysis of the SGLT2 gene in patients with renal glucosuria
    Rene Santer
    Department of Pediatrics, University of Kiel, Kiel, Germany
    J Am Soc Nephrol 14:2873-82. 2003
    ..We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance...
  18. ncbi request reprint von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
    Reinhard Schneppenheim
    Children s University Hospital, Hamburg Eppendorf Lab Association Prof Arndt and Partners, Coagulation Laboratory, Hamburg, Germany
    Blood 101:1845-50. 2003
    ..The phenotype of TTP in childhood can be rather variable. Besides the classical clinical picture, oligosymptomatic forms may occur that can delay the identification of patients at risk...
  19. ncbi request reprint Laboratory diagnosis of congenital von Willebrand disease
    Ulrich Budde
    Coagulation Laboratory, Laboratory Association Prof Arndt and Partners, Hamburg, Germany
    Semin Thromb Hemost 28:173-90. 2002
    ..4% n = 32) and type IIE/F/H-like structural abnormalities (28.6% n = 36). The spectrum was completed with samples from patients with types 2D, 2C, 2C Miami, smeary structures, and other rare subtypes (together 18.9% n = 23)...
  20. ncbi request reprint Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update
    Reinhard Schneppenheim
    University Hospital Hamburg Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany
    Semin Hematol 42:15-28. 2005
    ..This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD...
  21. ncbi request reprint Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization
    Reinhard Schneppenheim
    Paediatric Oncology, University Children s Hospital, Hamburg, Germany
    Thromb Haemost 92:36-41. 2004
    ..Our results demonstrate the causative nature of the two mutations and emphasize the impact of 'cysteine mutations' on the multimer structure of VWF...
  22. ncbi request reprint The evolving classification of von Willebrand disease
    Reinhard Schneppenheim
    Department of Pediatric Hematology and Oncology, Center of Gynecology, Obstetrics and Pediatrics, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Blood Coagul Fibrinolysis 16:S3-S10. 2005
    ..Improved classification of this heterogeneous disorder based on reproducible correlations between specific genetic mutations and recognized phenotypes should aid in determining appropriate management of patients with VWD...
  23. 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...
  24. ncbi request reprint Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification
    Ulrich Budde
    Coagulation Laboratory, Laboratory Association Professor Arndt and Partners, Hamburg, Germany
    Semin Thromb Hemost 32:514-21. 2006
    ..Recently, it has been shown that with a sensitive method of multimer analysis, a > 90% genotype-phenotype relation may be achieved in the near future...
  25. ncbi request reprint von Willebrand factor-cleaving protease (ADAMTS13) in the course of stem cell transplantation
    Karim Kentouche
    Department of Hematology, Children s Hospital, Friedrich Schiller University, Jena, Germany
    Semin Thromb Hemost 32:98-104. 2006
    ..Plasma exchange was not able to normalize ADAMTS13 deficiency in these patients, suggesting inactivation or consumption of ADAMTS13 activity in TAM...
  26. doi request reprint Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients
    Louise Fischer-Maas
    Department of Pediatrics, Pediatrics Hepatology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Pediatr Transplant 12:769-72. 2008
    ..We conclude that CCR5Delta32 polymorphism may not play a role in acute or chronic liver graft dysfunction in children...
  27. ncbi request reprint The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe
    Rene Santer
    Dept of Pediatrics, University Children s Hospital, Hamburg, Germany
    Hum Mutat 25:594. 2005
    ..Based on these data and after correction for less common and private ALDOB mutations, HFI prevalence in central Europe is estimated to be 1:26,100 (95% confidence interval 1: 12,600-79,000)...
  28. doi request reprint Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin
    Karin Beutel
    Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Pediatr Blood Cancer 53:184-90. 2009
    ..Epstein-Barr virus (EBV) is one of the most frequent triggers of hemophagocytic lymphohistiocytosis (HLH). EBV-associated HLH (EBV-HLH) and ectopic infection of T cells has been particularly described in patients from Far East Asia...
  29. 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...
  30. ncbi request reprint ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor
    Karin Beutel
    Paediatric Haematology and Oncology, University Medical Centre Hamburg Eppendorf, 20246 Hamburg, Germany
    Hamostaseologie 29:155-7. 2009
    ..The inhibitor did not reappear and FIX half-life normalized. No allergic reaction, no signs of nephrotic syndrome and no serious infections were observed...
  31. ncbi request reprint Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis
    Wolf Achim Hassenpflug
    Dept of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Martinistrasse 52, D 20246 Hamburg, Germany
    Blood 107:2339-45. 2006
    ..The results imply that increased VWF susceptibility for ADAMTS13 is a constitutive property of classical VWD type 2A, thus explaining the pronounced proteolytic fragments and loss of HMWM seen in multimer analysis in patients...
  32. doi request reprint Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD
    Giancarlo Castaman
    Department of Hematology, San Bortolo Hospital, Vicenza, Italy
    Blood 111:3531-9. 2008
    ..The presence of subtle multimeric abnormalities did not hamper potential clinically useful responses, as in typical type 1 VWD...
  33. ncbi request reprint The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
    Rene Santer
    Department of Pediatrics, University Children s Hospital, Schwanenweg 20, 24105 Kiel, Germany
    Hum Genet 110:21-9. 2002
    ..No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected...
  34. ncbi request reprint Haemophilia A: from mutation analysis to new therapies
    Jochen Graw
    GSF National Research Centre for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Nat Rev Genet 6:488-501. 2005
    ..Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods...
  35. ncbi request reprint Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    Anne Goodeve
    The Academic Unit of Haematology, University of Sheffield, United Kingdom
    Blood 109:112-21. 2007
    ..About one third of the type 1 VWD cases recruited could be reconsidered as type 2. The remaining group could be considered "true" type 1 VWD, although mutations were found in only 55%...
  36. ncbi request reprint Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome
    Michael C Frühwald
    University Children s Hospital Muenster, Department of Paediatric Haematology and Oncology, Muenster, Germany
    Pediatr Blood Cancer 47:273-8. 2006
    ..2. Several familial cases have been published and summarized under the term rhabdoid tumor predisposition syndrome. In all of the published familial cases, inactivation of SMARCB1 was detected in tumor tissues...
  37. ncbi request reprint Severe ADAMTS-13 deficiency in childhood
    Reinhard Schneppenheim
    Clinic of Paediatric Haematology and Oncology, University Hospital Hamburg Eppendorf, Germany
    Semin Hematol 41:83-9. 2004
    ..Accordingly, this article is directed towards pediatricians on neonatal and intensive care units, as well as their colleagues specializing in nephrology, hematology, and neurology...
  38. ncbi request reprint Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
    Sibylle Jakubiczka
    Institut fur Humangenetik, Otto von Guericke Universitat, Leipziger Str 44, 39120 Magdeburg, Germany
    Eur J Pediatr 166:743-5. 2007
    ....
  39. ncbi request reprint Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
    Christoph Licht
    Department of Pediatric Nephrology and Pediatric Hematology Oncology, University Children s Hospital of Cologne, Cologne, Germany
    Kidney Int 66:955-8. 2004
    ..One possible reason is the deficiency of von Willebrand factor-cleaving protease (vWF-CP) resulting in persistence of uncleaved, ultralarge von Willebrand factor multimers (ULvWFM)...
  40. ncbi request reprint A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype
    Udo Zur Stadt
    Blood 104:1909; author reply 1910. 2004
  41. ncbi request reprint Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient
    Alain P Gadisseur
    Department of Hematology, Antwerp University Hospital, Edegem, Belgium
    Thromb Haemost 98:464-6. 2007
  42. pmc Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD)
    Sandra L Haberichter
    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA
    Blood 111:4979-85. 2008
    ..The systematic assay of both plasma VWF and the VWF propeptide in moderately severe type 1 VWD patients may identify patients with a reduced VWF survival phenotype...
  43. doi request reprint Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor
    Clemens L Bockmeyer
    Department of Anaesthesiology and Intensive Care Medicine, University Hospital, Friedrich Schiller University, Erlanger Allee 101, D 07747 Jena, Germany
    Haematologica 93:137-40. 2008
    ..Our data support the view that systemic inflammation results in an ADAMTS13 deficiency which activates hemostasis...