Publikationen

zum Thema "Angeborene Störungen der Blutbildung"

 

 

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients.

Germeshausen M, Ballmaier M. Haematologica. 2020 Jul 23. doi: 10.3324/haematol.2020.257972. Online ahead of print. PMID: 32703794 Free article.

 

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Rütschle H, Schwabe D, Scott RH, Unal S, Wawer A, Zeller B, Ballmaier M. Blood Adv. 2018 Mar 27;2(6):586-596. doi: 10.1182/bloodadvances.2018016501. PMID: 29540340 Free PMC article.

 

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.

Balduini A, Raslova H, Di Buduo CA, Donada A, Ballmaier M, Germeshausen M, Balduini CL. Eur J Med Genet. 2018 Nov;61(11):715-722. doi: 10.1016/j.ejmg.2018.01.014. Epub 2018 Mar 13. PMID: 29545013 Review.

 

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

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 AC, Guerrero JA, 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, López JA, 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 MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. PMID: 27084890 Free PMC article.

 

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. doi: 10.3324/haematol.2015.125963. Epub 2015 Apr 24. PMID: 25911549 Free PMC article. Clinical Trial. No abstract available.

 

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. doi: 10.1111/ejh.12349. Epub 2014 May 13. PMID: 24750412

 

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. doi: 10.1002/humu.22476. Epub 2013 Dec 12. PMID: 24186861 Free PMC article.

 

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. doi: 10.1002/pbc.24566. Epub 2013 Apr 26. PMID: 23625800

 

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. doi: 10.1002/humu.22308. Epub 2013 Apr 2. PMID: 23463630

 

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

Aytekin C, Germeshausen M, Tuygun N, Dogu F, Ikinciogullari A. J Pediatr Hematol Oncol. 2013 Mar;35(2):e81-3. doi: 10.1097/MPH.0b013e3182679000. PMID: 23018568

 

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

Ballmaier M, Germeshausen M. Semin Thromb Hemost. 2011 Sep;37(6):673-81. doi: 10.1055/s-0031-1291377. Epub 2011 Nov 18. PMID: 22102270 Review.

 

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. doi: 10.1182/blood-2010-09-308262. Epub 2011 Feb 2. PMID: 21289307

 

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. doi: 10.1186/1471-213X-10-77. PMID: 20667107 Free PMC article.

 

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. doi: 10.1200/JCO.2009.25.9010. Epub 2010 Apr 20. PMID: 20406937 Clinical Trial.

 

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. doi: 10.1007/s00277-010-0928-y. Epub 2010 Mar 10. PMID: 20221761 No abstract available.

 

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. doi: 10.3324/haematol.2009.017665. Epub 2010 Mar 10. PMID: 20220065 Free PMC article.

 

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. doi: 10.1007/s00431-010-1151-5. Epub 2010 Feb 23. PMID: 20177699

 

Eponym. Kostmann disease.

Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Eur J Pediatr. 2010 Jun;169(6):657-60. doi: 10.1007/s00431-010-1149-z. Epub 2010 Feb 18. PMID: 20165869 Review.

 

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. doi: 10.1038/mt.2009.233. Epub 2009 Oct 20. PMID: 19844195 Free PMC article.

 

RAS and CSF3R mutations in severe congenital neutropenia.

Germeshausen M, Kratz CP, Ballmaier M, Welte K. Blood. 2009 Oct 15;114(16):3504-5. doi: 10.1182/blood-2009-07-232512. PMID: 19833857 No abstract available.

 

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. doi: 10.1016/j.leukres.2009.03.039. Epub 2009 Apr 26. PMID: 19398129

 

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M, Germeshausen M. Br J Haematol. 2009 Jun;146(1):3-16. doi: 10.1111/j.1365-2141.2009.07706.x. Epub 2009 Apr 21. PMID: 19388932 Review.

 

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. doi: 10.1056/NEJMoa0805051. PMID: 19118303 Free PMC article.

 

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. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10. PMID: 19120359 Review.

 

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. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19. PMID: 19036112

 

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. doi: 10.1182/blood-2008-09-178087. Epub 2008 Nov 19. PMID: 19020310

 

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. doi: 10.1111/j.1365-2141.2008.07440.x. Epub 2008 Oct 25. PMID: 19016735 No abstract available.

 

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. doi: 10.1111/j.1399-3046.2008.01048.x. Epub 2008 Sep 26. PMID: 18992063

 

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. doi: 10.1097/MOH.0b013e328303b9f6. PMID: 18536571 Review.

 

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. doi: 10.1111/j.1399-0004.2008.01019.x. Epub 2008 May 13. PMID: 18479478

 

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. doi: 10.1038/leu.2008.64. Epub 2008 Mar 20. PMID: 18354489 No abstract available.

 

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. doi: 10.1182/blood-2007-11-120667. Epub 2008 Mar 12. PMID: 18337561

 

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. doi: 10.1002/pbc.20877. PMID: 16652351

 

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. doi: 10.1038/sj.leu.2404846. Epub 2007 Jul 12. PMID: 17625610 No abstract available.

 

The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.

Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A. J Clin Immunol. 2007 Sep;27(5):525-33. doi: 10.1007/s10875-007-9106-y. Epub 2007 Jun 21. PMID: 17587155

 

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. doi: 10.3324/haematol.11222. PMID: 17405757 Free article.

 

Severe congenital neutropenia: inheritance and pathophysiology.

Skokowa J, Germeshausen M, Zeidler C, Welte K. Curr Opin Hematol. 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. PMID: 17133096 Review.

 

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. doi: 10.1038/ng1940. Epub 2006 Dec 24. PMID: 17187068

 

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. doi: 10.1038/nm1474. Epub 2006 Sep 24. PMID: 17063141

 

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. doi: 10.1182/blood-2006-02-004275. Epub 2006 Sep 19. PMID: 16985178

 

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. doi: 10.1016/j.exphem.2006.04.021. PMID: 16939809 Clinical Trial.

 

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. doi: 10.1182/blood-2005-11-4689. Epub 2006 Mar 21. PMID: 16551967

 

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. doi: 10.1002/humu.9415. PMID: 16470591

 

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. doi: 10.1111/j.1365-2141.2005.05819.x. PMID: 16351641

 

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. doi: 10.1038/sj.leu.2403850. PMID: 15973448 No abstract available.

 

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. doi: 10.1002/pbc.20332. PMID: 15782403 Review.

 

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. doi: 10.1196/annals.1349.005. PMID: 15958695 Review.

 

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. doi: 10.1038/sj.leu.2403663. PMID: 15729385

 

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. doi: 10.1111/j.1749-6632.2003.tb03228.x. PMID: 12799278

 

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. doi: 10.1007/BF02982098. PMID: 11794710 No abstract available.

 

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. doi: 10.1046/j.1365-2141.2001.03069.x. PMID: 11722436

 

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. doi: 10.1055/s-2001-17858. PMID: 11607851

 

[Congenital amegakaryocytic thrombocytopenia (CAMT) - a defect of the thrombopoietin receptor c-Mpl].

Germeshausen M, Schulze H, Gaudig A, Krukemeier S, Strauss G, Welte K, Ballmaier M. Klin Padiatr. 2001 Jul-Aug;213(4):155-61. doi: 10.1055/s-2001-16846. PMID: 11528548 Review. German.

 

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; discussion 320-1. doi: 10.1111/j.1749-6632.2001.tb03599.x. PMID: 11458519 Review.

 

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. doi: 10.1182/blood.v97.6.1882. PMID: 11238134

 

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. doi: 10.1182/blood.v97.3.829. PMID: 11227095 No abstract available.

 

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. doi: 10.1182/blood.v97.1.139. PMID: 11133753

 

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. doi: 10.1016/s0301-472x(99)00154-x. PMID: 10720694

 

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. doi: 10.1007/s002770050538. PMID: 10525827

 

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. doi: 10.1002/stem.5530160720. PMID: 11012189 Free article.

 

Severe congenital neutropenia patients with point mutations in the granulocyte colony-stimulating factor (G-CSF) receptor mRNA express a normal G-CSF receptor protein.

Kasper B, Herbst A, Pilz C, Germeshausen M, Tidow N, Hadam MR, Welte K. Blood. 1997 Oct 1;90(7):2839-41. PMID: 9326253 No abstract available.

 

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. PMID: 9226161

 

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. PMID: 9116280