635 results on '"Kunishima, Shinji"'
Search Results
2. Bernard–Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
3. A nationwide survey of MYH9-related disease in Japan
4. Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease
5. Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
6. Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome.
7. Expanding the genetic spectrum of TUBB1-related thrombocytopenia
8. Diagnostic delay of MYH9‐related disorder in Japan
9. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
10. ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor
11. Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC
12. Knock‐in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction
13. Differential Diagnosis: Congenital Macrothrombocytopenia
14. Platelet Adhesive Protein Defect Disorders
15. GPIbα is required for platelet-mediated hepatic thrombopoietin generation
16. Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly
17. A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction
18. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
19. Linkage between the mechanisms of thrombocytopenia and thrombopoiesis
20. Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders.
21. Renal injury associated with MYH9 disorder with 5773delG mutation: A case report
22. Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
23. Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders
24. Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
25. Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations
26. Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder
27. ACTN1 rod domain mutation associated with congenital macrothrombocytopenia
28. Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia
29. Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly
30. Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
31. Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly
32. The synergistic effect of BCR signaling inhibitors combined with an HDAC inhibitor on cell death in a mantle cell lymphoma cell line
33. Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3.
34. A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations
35. A case of MYH9 disorders caused by a novel mutation (p.K74E)
36. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema
37. 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
38. A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S
39. A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers
40. The first two cases of MYH9 disorders in Thailand: an international collaborative study
41. Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants
42. Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure
43. Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
44. Xq26.1–26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria
45. 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
46. Transient hemiparesis in a 14-year-old boy with MYH9 disorders
47. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
48. Spectrum of the Mutations in Bernard–Soulier Syndrome
49. Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents
50. TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia
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