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330 results on '"Thrombocytosis genetics"'

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1. Clinical utility of investigations in triple-negative thrombocytosis: A real-world, multicentre evaluation of UK practice.

2. Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

3. Diagnostic challenges and proposed classification of myeloid neoplasms with overlapping features of thrombocytosis, ring sideroblasts and concurrent del(5q) and SF3B1 mutations.

5. Relative impact of THPO mutation causing hereditary thrombocythemia.

6. Predicting survival in patients with myelodysplastic/myeloproliferative neoplasms with SF3B1 mutation and thrombocytosis.

8. Aleukemic Chronic Myeloid Leukemia Without Neutrophilia and Thrombocytosis: A Report From the BCR::ABL1 Pathology Group.

9. Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

10. Idiopathic Thrombocytosis in Alpha Thalassemia Trait Patient.

11. Germline MPL mutations may be a rare cause of "triple-negative" thrombocytosis.

13. JAK2 R683S Mutation Resulting in Dual Diagnoses of Chronic Eosinophilic Leukemia and Myelodysplastic/Myeloproliferative Overlap Syndrome.

14. Clinical characteristics of Japanese patients with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.

16. Atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative neoplasm, not otherwise specified: 2023 update on diagnosis, risk stratification, and management.

17. Myelofibrosis-type megakaryocyte dysplasia (MTMD) as a distinct category of BCR::ABL-negative myeloproliferative neoplasms. Challenges and perspectives.

19. Clonal Megakaryocyte Dysplasia with Isolated Thrombocytosis Is a Distinct Myeloproliferative Neoplasm Phenotype.

20. Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.

21. Long-Term Molecular Remission after Treatment with Imatinib in a Chronic Myeloid Leukemia Patient with Extreme Thrombocytosis Harboring Rare e14a3 (b3a3) BCR::ABL1 Transcript: A Case Report.

22. Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

23. Clinical Application for Diagnosis of Myelodysplatic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.

24. Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis: Ringing in a new future.

25. Tissue factor activity is increased in neutrophils from JAK2 V617F-mutated essential thrombocythemia and polycythemia vera patients.

26. Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients.

27. Pseudothrombocytosis due to small misshapen RBC and fragmented RBC in coexistence of beta thalassemia minor and secondary elliptocytosis.

28. Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts, thrombocytosis, and mutated JAK2/SF3B1 without anemia.

29. Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.

30. Treatment outcomes for patients with myelodysplastic syndrome/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis.

31. Clinical applications of thrombopoietin silencing: A possible therapeutic role in COVID-19?

32. Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation-associated familial thrombocytosis: a review of 64 paediatric and adult patients.

33. Hereditary thrombocytosis: the genetic landscape.

34. Acquisition of JAK2 V617F to CALR-mutated clones accelerates disease progression and might enhance growth capacity.

35. Clinical, genomic, and transcriptomic differences between myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) and myelodysplastic syndrome with ring sideroblasts (MDS-RS).

37. Thrombocytosis in an infant with a TRPV4 mutation: a case report.

38. Distinct effects of V617F and exon12-mutated JAK2 expressions on erythropoiesis in a human induced pluripotent stem cell (iPSC)-based model.

39. Stathmin 1 deficiency induces erythro-megakaryocytic defects leading to macrocytic anemia and thrombocythemia in Stathmin 1 knock out mice.

40. JAK2/CALR/SF3B1 triple-mutated myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis evolving to myelofibrosis and SF3B1 single-mutated acute myeloid leukemia: Evidence of a pre-JAK2 clone.

41. Clinical analysis and literature review of a case with the myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.

42. Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.

43. Clinicopathologic characterisation of myeloid neoplasms with concurrent spliceosome mutations and myeloproliferative-neoplasm-associated mutations.

44. A novel translocation t(10;17)(p13;q11.2) harboring two cryptic deletions identified by array-CGH and characterized by SUZ12 overexpression in a patient with chronic thrombocytosis.

45. Molecular genetics of MDS/MPN overlap syndromes.

46. Thrombocytosis and Effects of IL-6 Knock-Out in a Colitis-Associated Cancer Model.

48. Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea.

49. MDS/MPN-RS-T justified inclusion as a unique disease entity?

50. Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature.

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