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Orphanet Journal of Rare Diseases|April 27, 2016
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disordersVeronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, et al.
Blood|December 11, 2014
Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopeniaIléana Antony-Debré, Vladimir T Manchev, Nathalie Balayn, et al.
Blood|October 10, 2015
Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patientsXénia Cabagnols, Fabrizia Favale, Florence Pasquier, et al.
Haematologica|March 6, 2025
Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndromeLarissa Lordier, Christian A Di Buduo, Alexandre Kauskot, et al.
Nature Communications|March 30, 2016
Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architectureSimon Stritt, Paquita Nurden, Remi Favier, et al.
Haematologica|February 16, 2023
ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesisFrancesca Basso-Valentina, Alessandro Donada, Vladimir T Manchev, et al.
Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Haematologica|September 28, 2019
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT StudyFrancesco Paciullo, Loredana Bury, Patrizia Noris, et al.
Haematologica|April 8, 2017
Bleeding risk of surgery and its prevention in patients with inherited platelet disordersSara Orsini, Patrizia Noris, Loredana Bury, et al.
Haematologica|April 26, 2014
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopeniaPatrizia Noris, Nicole Schlegel, Catherine Klersy, et al.
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