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Novel germline JAK2<sup>R715T</sup> mutation causing PV‐like erythrocytosis in 3 generations. Amelioration by Ropeg‐Interferon.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1220, doi. 10.1002/ajh.27311
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- Publication type:
- Article
Measurement of red cell, plasma, and blood volume: A perspective.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 1, p. 9, doi. 10.1002/ajh.27158
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- Publication type:
- Article
Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40039-2
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- Publication type:
- Article
Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40039-2
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- Publication type:
- Article
Increased transferrin protects from thrombosis in Chuvash erythrocytosis.
- Published in:
- American Journal of Hematology, 2023, v. 98, n. 10, p. 1532, doi. 10.1002/ajh.27021
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- Publication type:
- Article
Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40039-2
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- Publication type:
- Article
Publisher Correction: Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42020-5
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- Publication type:
- Article
Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40039-2
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- Publication type:
- Article
Gene expression changes in sickle cell reticulocytes and their clinical associations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40039-2
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- Publication type:
- Article
Increased blood reactive oxygen species and hepcidin in obstructive sleep apnea precludes expected erythrocytosis.
- Published in:
- American Journal of Hematology, 2023, v. 98, n. 8, p. 1265, doi. 10.1002/ajh.26992
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- Publication type:
- Article
"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras".
- Published in:
- Genes, 2023, v. 14, n. 3, p. 640, doi. 10.3390/genes14030640
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- Publication type:
- Article
Developmental changes in iron metabolism and erythropoiesis in mice with human gain‐of‐function erythropoietin receptor.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 10, p. 1286, doi. 10.1002/ajh.26658
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- Publication type:
- Article
Tissue factor activity is increased in neutrophils from JAK2 V617F‐mutated essential thrombocythemia and polycythemia vera patients.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 2, p. E37, doi. 10.1002/ajh.26402
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- Publication type:
- Article
Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.
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- American Journal of Hematology, 2021, v. 96, n. 12, p. E448, doi. 10.1002/ajh.26356
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- Publication type:
- Article
Does neocytolysis exist after descent from high altitude?
- Published in:
- Acta Physiologica, 2021, v. 233, n. 3, p. 1, doi. 10.1111/apha.13713
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- Publication type:
- Article
Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 5, p. E150, doi. 10.1002/ajh.26121
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- Publication type:
- Article
How Do Red Blood Cells Die?
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.655393
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- Publication type:
- Article
The CYB5R3<sup>c</sup><sup>.350C>G</sup> and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 11, p. 1269, doi. 10.1002/ajh.25941
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- Publication type:
- Article
Peripheral blood mononuclear cells show prominent gene expression by erythroid progenitors in diseases characterized by heightened erythropoiesis.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 1, p. e42, doi. 10.1111/bjh.16696
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- Publication type:
- Article
A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.
- Published in:
- Neonatology (16617800), 2020, v. 117, n. 4, p. 532, doi. 10.1159/000510300
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- Publication type:
- Article
Response to interferon treatment in essential thrombocythemia with inv(3)(q21q26).
- Published in:
- 2019
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- Publication type:
- letter
Iron chelation and 2‐oxoglutarate‐dependent dioxygenase inhibition suppress mantle cell lymphoma's cyclin D1.
- Published in:
- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 11, p. 7785, doi. 10.1111/jcmm.14655
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- Publication type:
- Article
Experimental Modeling of Myeloproliferative Neoplasms.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 813, doi. 10.3390/genes10100813
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- Publication type:
- Article
Development of a symptom assessment in patients with myelofibrosis: qualitative study findings.
- Published in:
- 2019
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- Publication type:
- journal article
Three Novel Spectrin Variants in Jaundiced Neonates.
- Published in:
- Clinical Pediatrics, 2018, v. 57, n. 1, p. 19, doi. 10.1177/0009922816687326
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- Publication type:
- Article
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 5, p. 474, doi. 10.1002/ajh.24683
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- Publication type:
- Article
Evolutionary history of Tibetans inferred from whole-genome sequencing.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006675
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- Publication type:
- Article
The Cornerstone of the Aberrant Pathophysiology of Obstructive Sleep Apnea: Tissue Responses to Chronic Sustained Versus Intermittent Hypoxia.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2017, v. 56, n. 4, p. 419, doi. 10.1165/rcmb.2017-0028ed
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- Publication type:
- Article
Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1153, doi. 10.1002/humu.23061
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- Publication type:
- Article
A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4601, doi. 10.1093/hmg/ddw299
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- Publication type:
- Article
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
- Published in:
- British Journal of Haematology, 2016, v. 174, n. 5, p. 806, doi. 10.1111/bjh.14131
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- Publication type:
- Article
A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160614
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- Publication type:
- Article
Measuring End-Tidal Carbon Monoxide of Jaundiced Neonates in the Birth Hospital to Identify Those with Hemolysis.
- Published in:
- Neonatology (16617800), 2015, v. 109, n. 1, p. 1, doi. 10.1159/000438482
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- Publication type:
- Article
Metabolic aspects of high-altitude adaptation in Tibetans.
- Published in:
- Experimental Physiology, 2015, v. 100, n. 11, p. 1247, doi. 10.1113/EP085292
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- Publication type:
- Article
Novel α-Spectrin Mutation in Trans with α-Spectrin Causing Severe Neonatal Jaundice from Hereditary Spherocytosis.
- Published in:
- Neonatology (16617800), 2014, v. 106, n. 4, p. 355, doi. 10.1159/000365586
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- Publication type:
- Article
The homozygous VHL<sup>D126N</sup> missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 11, p. 2104, doi. 10.1002/pbc.25056
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- Publication type:
- Article
The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
- Published in:
- 2014
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- Publication type:
- journal article
Differential Sensitivity to JAK Inhibitory Drugs by Isogenic Human Erythroblasts and Hematopoietic Progenitors Generated from Patient-Specific Induced Pluripotent Stem Cells.
- Published in:
- Stem Cells, 2014, v. 32, n. 1, p. 269, doi. 10.1002/stem.1545
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- Publication type:
- Article
Variations in Both α-Spectrin (SPTA1) and β-Spectrin (SPTB) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis.
- Published in:
- Neonatology (16617800), 2013, v. 105, n. 1, p. 1, doi. 10.1159/000354884
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- Publication type:
- Article
Interim analysis of safety and efficacy of ruxolitinib in patients with myelofibrosis and low platelet counts.
- Published in:
- Journal of Hematology & Oncology, 2013, v. 6, n. 1, p. 3, doi. 10.1186/1756-8722-6-81
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- Publication type:
- Article
β-Thalassemia Due to Intronic LINE-1 Insertion in the β-Globin Gene ( HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of the β-Globin<sub> L1</sub> Allele.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1361, doi. 10.1002/humu.22383
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- Publication type:
- Article
Novel compound VHL heterozygosity ( VHL T124A/L188V) associated with congenital polycythaemia.
- Published in:
- British Journal of Haematology, 2013, v. 162, n. 6, p. 851, doi. 10.1111/bjh.12431
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- Publication type:
- Article
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 2, p. 157, doi. 10.1002/ajh.23362
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- Publication type:
- Article
Allogeneic haematopoietic cell transplantation for myelofibrosis in 30 patients 60-78 years of age.
- Published in:
- British Journal of Haematology, 2011, v. 153, n. 1, p. 76, doi. 10.1111/j.1365-2141.2011.08582.x
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- Publication type:
- Article
Anti-inflammatory effect of methyl dehydrojasmonate (J2) is mediated by the NF-κB pathway.
- Published in:
- Journal of Molecular Medicine, 2011, v. 89, n. 1, p. 83, doi. 10.1007/s00109-010-0688-0
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- Publication type:
- Article
EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34<sup>+</sup> Cell Differentiation and Increases Circulating Endothelial Precursors.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012015
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- Publication type:
- Article
Association of G6PD<sup> 202A,376G</sup> with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia.
- Published in:
- British Journal of Haematology, 2010, v. 150, n. 2, p. 218, doi. 10.1111/j.1365-2141.2010.08215.x
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- Publication type:
- Article
Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1α and HIF-2α.
- Published in:
- Journal of Molecular Medicine, 2010, v. 88, n. 5, p. 523, doi. 10.1007/s00109-010-0599-0
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- Publication type:
- Article
Anemia of Chronic Disease (Anemia of Inflammation).
- Published in:
- Acta Haematologica, 2009, v. 122, n. 2/3, p. 103, doi. 10.1159/000243794
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- Publication type:
- Article
Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001.
- Published in:
- 2009
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- Publication type:
- journal article