Congenital amegakaryocytic thrombocytopenia – Not a single disease

Authors: Germeshausen, Manuela, Ballmaier, Matthias

Source: In Best Practice & Research Clinical Haematology June 2021 34(2)

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders.

Authors: Ballmaier, Matthias, Germeshausen, Manuela, Schulze, Harald, Andres, Oliver

Source: Hämostaseologie; Aug2024, Vol. 44 Issue 4, p298-303, 6p

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

Authors: Balduini, Alessandra, Raslova, Hana, Di Buduo, Christian A., Donada, Alessandro, Ballmaier, Matthias, Germeshausen, Manuela, Balduini, Carlo L.

Source: In European Journal of Medical Genetics November 2018 61(11):715-722

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

Authors: Germeshausen, Manuela, Ancliff, Phil, Estrada, Jaime, Metzler, Markus, Ponstingl, Eva, Rütschle, Horst, Schwabe, Dirk, Scott, Richard H., Unal, Sule, Wawer, Angela, Zeller, Bernward, Ballmaier, Matthias

Source: In Blood Advances 27 March 2018 2(6):586-596

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

Authors: Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V.V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J.A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W.M., Henskens, Yvonne M.C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen ^*, Ouwehand, Willem H., Turro, Ernest ^*

Source: In Blood 9 June 2016 127(23):2791-2803

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

Authors: Germeshausen, Manuela, Grudzien, Magda, Zeidler, Cornelia, Abdollahpour, Hengameh, Yetgin, Sevgi, Rezaei, Nima, Ballmaier, Matthias, Grimbacher, Bodo, Welte, Karl ^*, Klein, Christoph

Source: In Blood 15 May 2008 111(10):4954-4957

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey

Authors: Germeshausen, Manuela, Ballmaier, Matthias, Welte, Karl

Source: In Blood 1 January 2007 109(1):93-99

International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Authors: Welte Karl, Germeshausen Manuela, Pracht Gusal, Zeidler Cornelia

Source: Orphanet Journal of Rare Diseases, Vol 5, Iss Suppl 1, p P22 (2010)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/c48657174bfc43bba96d374a91da375c

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

Authors: Köllner, Inga, Sodeik, Beate, Schreek, Sabine, Heyn, Holger, von Neuhoff, Nils, Germeshausen, Manuela, Zeidler, Cornelia, Krüger, Martin, Schlegelberger, Brigitte, Welte, Karl, Beger, Carmela

Source: In Blood 15 July 2006 108(2):493-500

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

Authors: Ballmaier, Matthias ^*, Germeshausen, Manuela, Schulze, Harald, Cherkaoui, Klara, Lang, Sabine, Gaudig, Annika, Krukemeier, Stephanie, Eilers, Martin, Strauß, Gabriele, Welte, Karl

Source: In Blood 1 January 2001 97(1):139-146

Thrombopoietin induces the generation of distinct Stat1, Stat3, Stat5a and Stat5b homo- and heterodimeric complexes with different kinetics in human platelets

Authors: Schulze, Harald, Ballmaier, Matthias, Welte, Karl ^*, Germeshausen, Manuela

Source: In Experimental Hematology 2000 28(3):294-304

Eponym. Kostmann disease.

Authors: Aytekin, Caner¹ caneraytekin@yahoo.com, Germeshausen, Manuela², Tuygun, Nilden¹, Tanir, Gonul¹, Dogu, Figen³, Ikinciogullari, Aydan³

Source: European Journal of Pediatrics. Jun2010, Vol. 169 Issue 6, p657-660. 4p. 1 Black and White Photograph, 1 Chart.

Subject Terms: *PEDIATRICIANS, *NEUTROPENIA, *JUVENILE diseases, *AGRANULOCYTOSIS, *GENETIC mutation

People: KOSTMANN, Rolf

Kostmann disease with developmental delay in three patients.

Authors: Aytekin, Caner¹ caneraytekin@yahoo.com, Germeshausen, Manuela², Tuygun, Nilden¹, Tanir, Gonul¹, Dogu, Figen³, Ikinciogullari, Aydan³

Source: European Journal of Pediatrics. Jun2010, Vol. 169 Issue 6, p759-762. 4p. 1 Chart.

Subject Terms: *NEUTROPENIA, *NEUTROPHILS, *DEVELOPMENTAL disabilities, *BACTERIAL diseases, *GENETIC disorders

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In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia

Authors: Germeshausen, Manuela ^*, Welte, Karl, Ballmaier, Matthias

Source: In Blood 15 January 2009 113(3):668-670

Acute lymphoblastic leukemia following severe congenital neutropenia or de novo ALL?

Authors: Valera, Elvis Terci, Brassesco, María Sol, Germeshausen, Manuela, Silveira, Vanessa da Silva, de Paula Queiroz, Rosane Gomes, Roxo, Pérsio, Scrideli, Carlos Alberto, de Menezes, Ullissis Pádua, Ferriani, Virgínia, Tone, Luiz Gonzaga

Source: In Leukemia Research 2009 33(9):e139-e142

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