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Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinøe E, Böckelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A. Zaninetti C, et al. Among authors: rivera j. J Thromb Haemost. 2024 Apr;22(4):1179-1186. doi: 10.1016/j.jtha.2023.12.007. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103735
Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J. de la Morena-Barrio ME, et al. Among authors: rivera j. Thromb Res. 2014 Mar;133(3):412-7. doi: 10.1016/j.thromres.2013.12.024. Epub 2013 Dec 21. Thromb Res. 2014. PMID: 24388574
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Among authors: rivera j. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study.
Paciullo F, Bury L, Noris P, Falcinelli E, Melazzini F, Orsini S, Zaninetti C, Abdul-Kadir R, Obeng-Tuudah D, Heller PG, Glembotsky AC, Fabris F, Rivera J, Lozano ML, Butta N, Favier R, Cid AR, Fouassier M, Podda GM, Santoro C, Grandone E, Henskens Y, Nurden P, Zieger B, Cuker A, Devreese K, Tosetto A, De Candia E, Dupuis A, Miyazaki K, Othman M, Gresele P. Paciullo F, et al. Among authors: rivera j. Haematologica. 2020 Jul;105(7):1948-1956. doi: 10.3324/haematol.2019.227876. Epub 2019 Sep 26. Haematologica. 2020. PMID: 31558677 Free PMC article.
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K. Megy K, et al. Among authors: rivera j. J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. J Thromb Haemost. 2021. PMID: 34355501 Free PMC article.
The EHA Research Roadmap: Platelet Disorders.
Balduini C, Freson K, Greinacher A, Gresele P, Kühne T, Scully M, Bakchoul T, Coppo P, Dovc Drnovsek T, Godeau B, Gruel Y, Rao AK, Kremer Hovinga JA, Makris M, Matzdorff A, Mumford A, Pecci A, Raslova H, Rivera J, Roberts I, Scharf RE, Semple JW, Van Geet C. Balduini C, et al. Among authors: rivera j. Hemasphere. 2021 Jun 30;5(7):e601. doi: 10.1097/HS9.0000000000000601. eCollection 2021 Jul. Hemasphere. 2021. PMID: 34476343 Free PMC article. No abstract available.
Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet Physiology.
Frelinger AL 3rd, Rivera J, Connor DE, Freson K, Greinacher A, Harrison P, Kunishima S, Lordkipanidzé M, Michelson AD, Ramström S, Gresele P. Frelinger AL 3rd, et al. Among authors: rivera j. J Thromb Haemost. 2021 Dec;19(12):3193-3202. doi: 10.1111/jth.15526. Epub 2021 Sep 27. J Thromb Haemost. 2021. PMID: 34580997 Free article.
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
Marín-Quílez A, Vuelta E, Díaz-Ajenjo L, Fernández-Infante C, García-Tuñón I, Benito R, Palma-Barqueros V, Hernández-Rivas JM, González-Porras JR, Rivera J, Bastida JM. Marín-Quílez A, et al. Among authors: rivera j. J Thromb Haemost. 2022 May;20(5):1248-1255. doi: 10.1111/jth.15672. Epub 2022 Feb 28. J Thromb Haemost. 2022. PMID: 35170221 Free PMC article.
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.
Palma-Barqueros V, Revilla N, Zaninetti C, Galera AM, Sánchez-Fuentes A, Zámora-Cánovas A, Bohdan N, Padilla J, Marín-Quilez A, Rodriguez-Alen A, Fuster JL, Greinacher A, Vicente V, Bastida JM, Rivera J, Lozano ML. Palma-Barqueros V, et al. Among authors: rivera j. Blood Adv. 2022 Sep 13;6(17):5244-5255. doi: 10.1182/bloodadvances.2021005446. Blood Adv. 2022. PMID: 35349645 Free PMC article.
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B. Bastida JM, et al. Among authors: rivera j. Cells. 2022 Oct 14;11(20):3223. doi: 10.3390/cells11203223. Cells. 2022. PMID: 36291092 Free PMC article.
2,284 results