254 results on '"Percy, Melanie J."'
Search Results
2. International external quality assurance of JAK2 V617F quantification
3. DEK oncogene expression during normal hematopoiesis and in Acute Myeloid Leukemia (AML)
4. Hypoxia-inducible factor 2α regulates key neutrophil functions in humans, mice, and zebrafish
5. A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report
6. Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations
7. Regulation of human metabolism by hypoxia-inducible factor
8. A Family with Erythrocytosis Establishes a Role for Prolyl Hydroxylase Domain Protein 2 in Oxygen Homeostasis
9. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms
10. Molecular diagnostics of myeloproliferative neoplasms
11. Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor–EPOR chimeras
12. Erythrocytosis in children and adolescents—classification, characterization, and consensus recommendations for the diagnostic approach
13. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
14. Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
15. Two new mutations in the HIF2A gene associated with erythrocytosis
16. A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis
17. A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses
18. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
19. Disorders of oxidised haemoglobin
20. The HIF2A Gene in Familial Erythrocytosis
21. Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency
22. Brief Report: A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis
23. Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease
24. ERYTHROCYTOSIS AND THE CHUVASH VON HIPPEL-LINDAU MUTATION
25. Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma
26. International external quality assurance of JAK2 V617F quantification
27. Erythrocytosis due to a mutation in the erythropoietin receptor gene
28. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation
29. The role of PHD2 mutations in the pathogenesis of erythrocytosis
30. Erythrocytosis associated with a novel missense mutation in the BPGM gene
31. Genetic Basis of Congenital Erythrocytosis : Mutation Update and Online Databases
32. The role of PHD2 mutations in the pathogenesis of erythrocytosis
33. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation
34. A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism
35. Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation
36. The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3
37. Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis
38. Arrested Differentiation in Acute Myeloid Leukemia (AML) with Silenced Ankyrin Repeat and SOCS Box Protein 3 (ASB3) Expression
39. Methemoglobin Reductase Deficiency
40. Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma
41. A Novel Base Change Leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]
42. Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation
43. The HIF Pathway and Erythrocytosis
44. Erythropoietin-Induced Activation of the JAK2/STAT5, PI3K/Akt, and Ras/ERK Pathways Promotes Malignant Cell Behavior in a Modified Breast Cancer Cell Line
45. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
46. A genetic disease in humans demonstrates the importance of hypoxia‐inducible factor in skeletal muscle metabolism
47. Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline
48. A NOVEL L218P MUTATION IN NADH-CYTOCHROME B5 REDUCTASE ASSOCIATED WITH TYPE I RECESSIVE CONGENITAL METHEMOGLOBINEMIA
49. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
50. Recessive congenital methaemoglobinaemia: cytochrome b5reductase deficiency
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