Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia von Ballmaier, M, Germeshausen, M, Krukemeier, S, Welte, K

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Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation von Yetgin, S, Olcay, L, Koç, A, Germeshausen, M

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Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome von Boztug, K, Germeshausen, M, Avedillo Díez, I, Gulacsy, V, Diestelhorst, J, Ballmaier, M, Welte, K, Maródi, L, Chernyshova, LI, Klein, C

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Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient von Boztug, K, Baumann, U, Ballmaier, M, Webster, D, Sandrock, I, Jacobs, R, Lion, T, Preuner, S, Germeshausen, M, Hansen, G, Welte, K, Klein, C

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) von Dahl, Niklas, Appaswamy, Giridharan, Schwinzer, Beate, Melin, Malin, Henter, Jan-Inge, Rathinam, Chozhavendan, Germeshausen, Manuela, Fadeel, Bengt, Bohn, Georg, Zeidler, Cornelia, Welte, Karl, Rezaei, Nima, Boztug, Kaan, Grimbacher, Bodo, Sandrock, Inga, Palmblad, Jan, Klein, Christoph, Schäffer, Alejandro A, Grudzien, Magda, Carlsson, Göran

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Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias von Ballmaier, Matthias, Holter, Wolfgang, Germeshausen, Manuela

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CSF3R mutations in paediatric acute myeloid leukaemia von Scharn, N., Ballmaier, M., Reinhardt, K., Ehlers, S., Zimmermann, M., Welte, K., Reinhardt, D., Germeshausen, M.

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Acute lymphoblastic leukemia in a patient with congenital neutropenia without G-CSF-R and ELA2 mutations von YETGIN, S, GERMESHAUSEN, M, TOUW, I, KOC, A, OLCAY, L

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Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia von TIDOW, N, PILZ, C, TEICHMANN, B, MÜLLER-BRECHLIN, A, GERMESHAUSEN, M, KASPER, B, RAUPRICH, P, SYKORA, K.-W, WELTE, K

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Digenic mutations in severe congenital neutropenia von GERMESHAUSEN, Manuela, ZEIDLER, Cornelia, STUHRMANN, Manfred, LANCIOTTI, Marina, BALIMAIER, Matthias, WELTE, Karl

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c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia von Ballmaier, Matthias, Germeshausen, Manuela, Schulze, Harald, Cherkaoui, Klara, Lang, Sabine, Gaudig, Annika, Krukemeier, Stephanie, Eilers, Martin, Strauß, Gabriele, Welte, Karl

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Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe congenital neutropenia von Germeshausen, Manuela, Ballmaier, Matthias, Schulze, Harald, Welte, Karl, Flohr, Thomas, Beiske, Klaus, Storm-Mathisen, Ingebjørg, Abrahamsen, Tore G.

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The Spectrum of ELANEMutations and their Implications in Severe Congenital and Cyclic Neutropenia von Germeshausen, M, Deerberg, S, Peter, Y, Reimer, C, Kratz, C P, Ballmaier, M

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Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients von King, Stephanie, Germeshausen, Manuela, Strauss, Gabriele, Welte, Karl, Ballmaier, Matthias

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders von Simeoni, I, Stephens, JC, Hu, F, Deevi, SV, Megy, K, Bariana, TK, Lentaigne, C, Schulman, S, Sivapalaratnam, S, Vries, MJ, Westbury, SK, Greene, D, Papadia, S, Alessi, MC, Attwood, AP, Ballmaier, M, Baynam, G, Bermejo, E, Bertoli, M, Bray, PF, Bury, L, Cattaneo, M, Collins, P, Daugherty, LC, Favier, R, French, DL, Furie, B, Gattens, M, Germeshausen, M, Ghevaert, C, Goodeve, A, Guerrero, J, Hampshire, DJ, Hart, DP, Heemskerk, JW, Henskens, YM, Hill, M, Hogg, N, Jolley, JD, Kahr, WH, Kelly, AM, Kerr, R, Kostadima, M, Kunishima, S, Lambert, MP, Liesner, R, Lopez, J, Mapeta, RP, Mathias, M, Millar, CM, Nathwani, A, Neerman-Arbez, M, Nurden, AT, Nurden, P, Othman, M, Peerlinck, K, Perry, DJ, Poudel, P, Reitsma, P, Rondina, M, Smethurst, PA, Stevenson, W, Szkotak, A, Tuna, S, Van Geet, C, Whitehorn, D, Wilcox, DA, Zhang, B, Revel-Vilk, S, Gresele, P, Bellissimo, D, Penkett, CJ, Laffan, MA, Mumford, AD, Rendon, A, Gomez, K, Freson, K, Ouwehand, WH, Turro, E

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Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia von Germeshausen, Manuela, Schulze, Harald, Ballmaier, Matthias, Zeidler, Cornelia, Welte, Karl

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An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia von GERMESHAUSEN, M, SCHULZE, H, KRATZ, C, WILKENS, L, REPP, R, SHANNON, K, WELTE, K, BALLMAIER, M

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Severe congenital neutropenia patients with point mutations in the granulocyte colony-stimulating factor (G-CSF) receptor mRNA express a normal G-CSF receptor protein von Kasper, B, Herbst, A, Pilz, C, Germeshausen, M, Tidow, N, Hadam, M R, Welte, K

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Implications of Mutations in Hematopoietic Growth Factor Receptor Genes in Congenital Cytopenias von GERMESHAUSEN, MANUELA, BALLMAIER, MATTHIAS, WELTE, KARL

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Thrombopoietin induces the generation of distinct Stat1, Stat3, Stat5a and Stat5b homo- and heterodimeric complexes with different kinetics in human platelets von Schulze, Harald, Ballmaier, Matthias, Welte, Karl, Germeshausen, Manuela

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