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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.
Uterine allograft removal by total laparoscopic hysterectomy after successful cesarean delivery in a living-donor uterus recipient with uterovaginal agenesis (MRKHS).
Brucker SY, Krämer B, Abele H, Henes M, Hoopmann M, Schöller D, Königsrainer A, Bösmüller H, Nikolaou K, Krumm P, Rosenberger P, Heim E, Amend B, Rausch S, Althaus K, Bakchoul T, Guthoff M, Heyne N, Nadalin S, Rall KK. Brucker SY, et al. Among authors: althaus k. Arch Gynecol Obstet. 2023 Mar;307(3):827-840. doi: 10.1007/s00404-022-06796-7. Epub 2022 Nov 7. Arch Gynecol Obstet. 2023. PMID: 36342536 Free PMC article.
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.
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.
Multicentre evaluation of 5B9, a monoclonal anti-PF4/heparin IgG mimicking human HIT antibodies, as an internal quality control in HIT functional assays: Communication from the ISTH SSC Subcommittee on Platelet Immunology.
Pouplard C, Rollin J, Vayne C, Charuel N, Ahmadi Z, Alberio L, Azjenberg N, Althaus K, Bakchoul T, Chong B, Curtis BR, Faille D, Gomez FJ, Gresele P, Morel-Kopp MC, Mullier F, Nazy I, Smith JW, Greinacher A, Gruel Y. Pouplard C, et al. Among authors: althaus k. J Thromb Haemost. 2022 Jan;20(1):252-259. doi: 10.1111/jth.15560. Epub 2021 Nov 3. J Thromb Haemost. 2022. PMID: 34657390 Free article.
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
Andres O, König EM, Althaus K, Bakchoul T, Bugert P, Eber S, Knöfler R, Kunstmann E, Manukjan G, Meyer O, Strauß G, Streif W, Thiele T, Wiegering V, Klopocki E, Schulze H; THROMKIDplus Study Group of the Society of Paediatric Oncology Haematology (Gesellschaft für Pädiatrische Onkologie und Hämatologie, GPOH) and the Society of Thrombosis Haemostasis Research (Gesellschaft für Thrombose- und Hämostaseforschung, GTH). Andres O, et al. Among authors: althaus k. TH Open. 2018 Dec 30;2(4):e445-e454. doi: 10.1055/s-0038-1676813. eCollection 2018 Oct. TH Open. 2018. PMID: 31249973 Free PMC article.
121 results