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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Among authors: schulze h. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.
Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome.
Fiedler J, Strauss G, Wannack M, Schwiebert S, Seidel K, Henning K, Klopocki E, Schmugge M, Gaedicke G, Schulze H. Fiedler J, et al. Among authors: schulze h. Haematologica. 2012 Jan;97(1):73-81. doi: 10.3324/haematol.2011.049619. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933853 Free PMC article.
[Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e. V.)].
Streif W, Knöfler R, Eberl W, Andres O, Bakchoul T, Bergmann F, Beutel K, Dittmer R, Gehrisch S, Gottstein S, Halimeh S, Haselböck J, Hassenpflug WA, Heine S, Holzhauer S, King S, Kirchmaier CM, Krause M, Kreuz W, Lösche W, Mahnel R, Maurer M, Nimtz-Talaska A, Olivieri M, Rott H, Schambeck ChM, Schedel A, Schilling FH, Schmugge M, Schneppenheim R, Scholz U, Scholz T, Schulze H, Siegemund A, Strauß G, Sykora KW, Wermes C, Wiegering V, Wieland I, Zieger B, Zotz RB; Paediatric Committee of the Society of Thrombosis and Haemostasis Research. Streif W, et al. Among authors: schulze h. Hamostaseologie. 2014;34(4):269-75, quiz 276. doi: 10.5482/HAMO-2014040001. Hamostaseologie. 2014. PMID: 25370176 German.
Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.
Schulze H, Schlagenhauf A, Manukjan G, Beham-Schmid C, Andres O, Klopocki E, König EM, Haidl H, Panzer S, Althaus K, Muntean WE, Schwinger W, Urban C, Greinacher A, Bakchoul T, Seidel MG. Schulze H, et al. Haematologica. 2017 Sep;102(9):e375-e378. doi: 10.3324/haematol.2017.167957. Epub 2017 May 26. Haematologica. 2017. PMID: 28550182 Free PMC article. No abstract available.
977 results