SitemapImpressumDatenschutzerklärungdeutschenglish
MHH Logo

Publikationen

zum Thema "Angeborene Störungen der Blutbildung"

 

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.
Ballmaier M, Holter W, Germeshausen M.
Haematologica. 2015 Sep;100(9):e341-4

 

A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.
Arikoglu T, Kuyucu N, Germeshausen M, Kuyucu S.
Eur J Haematol
. 2015 Jan;94(1):79-82.

 

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A. Hum Mutat. 2014 Feb; 35(2):236-47

 

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. Stoddart MT, Connor P, Germeshausen M, Ballmaier M, Steward CG. Pediatr Blood Cancer. 2013 Sep;60(9):E94-6.

 

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. Hum Mutat. 2013 Jun;34(6):905-14.

 

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Ballmaier M, Germeshausen M. Semin Thromb Hemost. 2011 Sep;37(6):673-81.

 

Lentiviral gene transfer regenerates hematopoietic stem cells in a mouse model for Mpl-deficient aplastic anemia. Heckl D, Wicke DC, Brugman MH, Meyer J, Schambach A, Büsche G, Ballmaier M, Baum C, Modlich U. Blood. 2011 Apr 7;117(14):3737-47.

 

Expression pattern of the thrombopoietin receptor (Mpl) in the murine central nervous system. Ivanova A, Wuerfel J, Zhang J, Hoffmann O, Ballmaier M, Dame C. BMC Dev Biol. 2010 Jul 28;10:77.

 

MYH9-related disease: Report on five German families and description of a novel mutation. Savoia A, Germeshausen M, De Rocco D, Henschel B, Kratz CP, Kuhlen M, Rath B, Steuhl KP, Wermes C, Ballmaier M. Ann Hematol. 2010 Oct;89(10):1057-9.

 

Granulocyte colony-stimulating factor (G-CSF) treatment of childhood acute myeloid leukemias that overexpress the differentiation-defective G-CSF receptor isoform IV is associated with a higher incidence of relapse. Ehlers S, Herbst C, Zimmermann M, Scharn N, Germeshausen M, von Neuhoff N, Zwaan CM, Reinhardt K, Hollink IH, Klusmann JH, Lehrnbecher T, Roettgers S, Stary J, Dworzak M, Welte K, Creutzig U, Reinhardt D. J Clin Oncol. 2010 May 20;28(15):2591-7

 

Digenic mutations in severe congenital neutropenia. Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Haematologica. 2010 Jul;95(7):1207-10.

 

Kostmann disease with developmental delay in three patients. Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Eur J Pediatr. 2010 Jun;169(6):759-62.

 

Eponym. Kostmann disease. Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Eur J Pediatr. 2010 Jun;169(6):657-60.

 

Gene therapy of MPL deficiency: challenging balance between leukemia and pancytopenia. Wicke DC, Meyer J, Buesche G, Heckl D, Kreipe H, Li Z, Welte KH, Ballmaier M, Baum C, Modlich U. Mol Ther. 2010 Feb;18(2):343-52.

 

RAS and CSF3R mutations in severe congenital neutropenia. Germeshausen M, Kratz CP, Ballmaier M, Welte K. Blood. 2009 Oct 15;114(16):3504-5.

 

Acute lymphoblastic leukemia following severe congenital neutropenia or de novo ALL? Valera ET, Brassesco MS, Germeshausen M, Silveira Vda S, Queiroz RG, Roxo P, Scrideli CA, de Menezes UP, Ferriani V, Tone LG. Leuk Res. 2009 Sep;33(9):e139-42.

 

Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Ballmaier M, Germeshausen M. Br J Haematol. 2009 Jun;146(1):3-16.

 

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Zeidler C, Germeshausen M, Klein C, Welte K. Br J Haematol. 2009 Feb;144(4):459-67

 

A syndrome with congenital neutropenia and mutations in G6PC3. Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. N Engl J Med. 2009 Jan 1;360(1):32-43.

 

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. El-Harith el-HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MA, Hübener J, Schmidtke J, Welte K, Stuhrmann M. Br J Haematol. 2009 Jan;144(2):185-94

 

In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia. Germeshausen M, Welte K, Ballmaier M. Blood. 2009 Jan 15;113(3):668-70.

 

CSF3R mutations in paediatric acute myeloid leukaemia. Scharn N, Ballmaier M, Reinhardt K, Ehlers S, Zimmermann M, Welte K, Reinhardt D, Germeshausen M. Br J Haematol. 2009 Jan;144(1):140-2.

 

Unrelated cord blood transplantation in children with severe congenital neutropenia. Yesilipek MA, Tezcan G, Germeshausen M, Kupesiz A, Uygun V, Hazar V. Pediatr Transplant. 2009 Sep;13(6):777-81.

 

G-CSF receptor mutations in patients with congenital neutropenia. Germeshausen M, Skokowa J, Ballmaier M, Zeidler C, Welte K. Curr Opin Hematol. 2008 Jul;15(4):332-7.

 

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C. Clin Genet. 2008 Jul;74(1):68-74.

 

Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation. Yetgin S, Olcay L, Koç A, Germeshausen M. Leukemia. 2008 Sep;22(9):1797.

 

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C. Blood. 2008 May 15;111(10):4954-7.

 

Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient. Boztug K, Baumann U, Ballmaier M, Webster D, Sandrock I, Jacobs R, Lion T, Preuner S, Germeshausen M, Hansen G, Welte K, Klein C. Haematologica. 2007 Mar;92(3):e43-5.

 

Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis. Hussein K, Bock O, Ballmaier M, Göhring G, Steinemann D, Lehmann U, Kemper J, Buhr T, Kreipe H. Leukemia. 2007 Dec;21(12):2566-8.

 

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Nat Genet. 2007 Jan;39(1):86-92.

 

Severe congenital neutropenia: inheritance and pathophysiology. Skokowa J, Germeshausen M, Zeidler C, Welte K. Curr Opin Hematol. 2007 Jan;14(1):22-8.

 

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, Zeidler C, Lehmann U, Eder M, Baum C, Grosschedl R, Stanulla M, Scherr M, Welte K. Nat Med. 2006 Oct;12(10):1191-7.

 

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Germeshausen M, Ballmaier M, Welte K. Blood. 2007 Jan 1;109(1):93-9.

 

Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro. Dewey RA, Avedillo Díez I, Ballmaier M, Filipovich A, Greil J, Güngör T, Happel C, Maschan A, Noyan F, Pannicke U, Schwarz K, Snapper S, Welte K, Klein C. Exp Hematol. 2006 Sep;34(9):1161-9.

 

Congenital dysgranulopoietic neutropenia. Olcay L, Yetgin S, Erdemli E, Germeshausen M, Aktaş D, Büyükaşik Y, Okur H. Pediatr Blood Cancer. 2008 Jan;50(1):115-9.

 

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, Zeidler C, Krüger M, Schlegelberger B, Welte K, Beger C. Blood. 2006 Jul 15;108(2):493-500.

 

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Germeshausen M, Ballmaier M, Welte K. Hum Mutat. 2006 Mar;27(3):296.

 

Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. King S, Germeshausen M, Strauss G, Welte K, Ballmaier M. Br J Haematol. 2005 Dec;131(5):636-44.

 

Acute lymphoblastic leukemia in a patient with congenital neutropenia without G-CSF-R and ELA2 mutations. Yetgin S, Germeshausen M, Touw I, Koç A, Olcay L. Leukemia. 2005 Sep;19(9):1710-1.

 

Thrombopoietin regulates differentiation of rhesus monkey embryonic stem cells to hematopoietic cells. Wang Z, Skokowa J, Pramono A, Ballmaier M, Welte K. Ann N Y Acad Sci. 2005 Jun;1044:29-40.

 

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. Steele M, Hitzler J, Doyle JJ, Germeshausen M, Fernandez CV, Yuille K, Dror Y. Pediatr Blood Cancer. 2005 Aug;45(2):212-6.

 

An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia. Germeshausen M, Schulze H, Kratz C, Wilkens L, Repp R, Shannon K, Welte K, Ballmaier M. Leukemia. 2005 Apr;19(4):611-7.

 

Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. Ballmaier M, Germeshausen M, Krukemeier S, Welte K. Ann N Y Acad Sci. 2003 May;996:17-25.

 

TNF and lymphotoxin-alpha polymorphisms in patients with severe chronic neutropenia. Gavrikova N, Zeidler C, Stanulla M, Germeshausen M, Schwinzer B, Welte K. Int J Hematol. 2001 Dec;74(4):477-8.

 

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K. Br J Haematol. 2001 Oct;115(1):222-4.

 

Concentrations of thrombopoietin and interleukin-11 in the umbilical cord blood of patients with fetal alloimmune thrombocytopenia. Dame C, Cremer M, Ballmaier M, Bartmann P, Bald R, Schild RL, Fahnenstich H. Am J Perinatol. 2001 Sep;18(6):335-44.

 

Implications of mutations in hematopoietic growth factor receptor genes in congenital cytopenias. Germeshausen M, Ballmaier M, Welte K. Ann N Y Acad Sci. 2001 Jun;938:305-20

 

Time course of increasing numbers of mutations in the granulocyte colony-stimulating factor receptor gene in a patient with congenital neutropenia who developed leukemia. Tschan CA, Pilz C, Zeidler C, Welte K, Germeshausen M. Blood. 2001 Mar 15;97(6):1882-4.

 

Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe congenital neutropenia. Germeshausen M, Ballmaier M, Schulze H, Welte K, Flohr T, Beiske K, Storm-Mathisen I, Abrahamsen TG. Blood. 2001 Feb 1;97(3):829-30.

 

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K. Blood. 2001 Jan 1;97(1):139-46.

 

Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii. Ballmaier M, Schulze H, Cremer M, Folman CC, Strauss G, Welte K. Stem Cells. 1998;16 Suppl 2:177-84.

 

Thrombopoietin induces the generation of distinct Stat1, Stat3, Stat5a and Stat5b homo- and heterodimeric complexes with different kinetics in human platelets. Schulze H, Ballmaier M, Welte K, Germeshausen M. Exp Hematol. 2000 Mar;28(3):294-304.

 

Serum levels of thrombopoietin, IL-11, and IL-6 in pediatric thrombocytopenias. Cremer M, Schulze H, Linthorst G, Folman CC, Wehnert S, Strauss G, von dem Borne AE, Welte K, Ballmaier M. Ann Hematol. 1999 Sep;78(9):401-7.

 

Thrombopoietin acts synergistically on Ca(2+) mobilization in platelets caused by ADP or thrombin receptor agonist peptide. Eilers M, Schulze H, Welte K, Ballmaier M. Biochem Biophys Res Commun. 1999 Sep 16;263(1):230-8.

 

Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Ballmaier M, Schulze H, Strauss G, Cherkaoui K, Wittner N, Lynen S, Wolters S, Bogenberger J, Welte K. Blood. 1997 Jul 15;90(2):612-9.

 

Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Tidow N, Pilz C, Teichmann B, Müller-Brechlin A, Germeshausen M, Kasper B, Rauprich P, Sykora KW, Welte K. Blood. 1997 Apr 1;89(7):2369-75.