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126 results

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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Revel-Vilk S, Shai E, Turro E, Jahshan N, Hi-Am E, Spectre G, Daum H, Kalish Y, Althaus K, Greinacher A, Kaplinsky C, Izraeli S, Mapeta R, Deevi SVV, Jarocha D, Ouwehand WH, Downes K, Poncz M, Varon D, Lambert MP. Revel-Vilk S, et al. Among authors: althaus k. Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31. Blood. 2018. PMID: 30171045 Free PMC article. No abstract available.
MYH9-related platelet disorders.
Althaus K, Greinacher A. Althaus K, et al. Semin Thromb Hemost. 2009 Mar;35(2):189-203. doi: 10.1055/s-0029-1220327. Epub 2009 Apr 30. Semin Thromb Hemost. 2009. PMID: 19408192 Review.
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. Among authors: althaus k. 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.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I. Bury L, et al. Among authors: althaus k. Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15. Hum Mutat. 2020. PMID: 31562665 Free PMC article.
Flucloxacillin-induced immune thrombocytopenia.
Jatzlauk G, Althaus K, Strobel U, Kiefel V, Wesche J, Muehlenberg K, Greinacher A, Bakchoul T. Jatzlauk G, et al. Among authors: althaus k. Transfusion. 2016 Jan;56(1):67-72. doi: 10.1111/trf.13284. Epub 2015 Sep 1. Transfusion. 2016. PMID: 26331798
126 results