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Recessive Hereditary Methemoglobinemia Type II in a Microcephalic Infant.
- Published in:
- Clinical Pediatrics, 2024, v. 63, n. 12, p. 1636, doi. 10.1177/00099228241235441
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- Article
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
- Published in:
- Frontiers in Physiology, 2021, v. 11, p. 1, doi. 10.3389/fphys.2021.684569
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- Article
A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.
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- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.581386
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- Article
Hereditary red cell membrane defects: diagnostic and clinical aspects.
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- Blood Transfusion (17232007), 2011, v. 9, n. 3, p. 274, doi. 10.2450/2011.0086-10
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- Article
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31571-2
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- Article
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
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- British Journal of Haematology, 2023, v. 203, n. 4, p. 684, doi. 10.1111/bjh.19038
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- Article
Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years.
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- British Journal of Haematology, 2022, v. 198, n. 5, p. 912, doi. 10.1111/bjh.18106
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- Article
The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*.
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- British Journal of Haematology, 2022, v. 198, n. 3, p. 459, doi. 10.1111/bjh.18191
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- Article
Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning.
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- British Journal of Haematology, 2020, v. 190, n. 4, p. e250, doi. 10.1111/bjh.16868
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- Article
Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation.
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- British Journal of Haematology, 2019, v. 185, n. 3, p. 523, doi. 10.1111/bjh.15811
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- Article
Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo‐glycosylation phenotype associated with CDAII.
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- British Journal of Haematology, 2019, v. 184, n. 5, p. 876, doi. 10.1111/bjh.15189
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- Article
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.
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- British Journal of Haematology, 2016, v. 175, n. 4, p. 696, doi. 10.1111/bjh.14271
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- Article
Glycolytic activity and in vitro effect of the pyruvate kinase activator AG‐946 in red blood cells from low‐risk myelodysplastic syndromes patients: A proof‐of‐concept study.
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- American Journal of Hematology, 2024, v. 99, n. 6, p. 1201, doi. 10.1002/ajh.27300
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- Article
Immunomodulatory cytokines and clonal dynamics in low‐risk myelodysplastic syndromes patients treated with luspatercept.
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- American Journal of Hematology, 2023, v. 98, n. 11, p. E345, doi. 10.1002/ajh.27072
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- Article
Recommendations for diagnosis and treatment of methemoglobinemia.
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- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
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- Article
Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0032065
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- Article
Pathological and genomic features of myeloproliferative neoplasms associated with splanchnic vein thrombosis in a single-center cohort.
- Published in:
- Annals of Hematology, 2023, v. 102, n. 6, p. 1409, doi. 10.1007/s00277-023-05217-2
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- Article
CD18 promoter methylation is associated with a higher risk of thrombotic complications in primary myelofibrosis.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib.
- Published in:
- 2015
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- Publication type:
- Letter
Clinical and morphologic features in five post-polycythemic myelofibrosis patients treated with ruxolitinib.
- Published in:
- 2015
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- Publication type:
- Letter
Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis.
- Published in:
- 2015
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- Publication type:
- Letter
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01309
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- Article
The Significance of Bone Marrow Biopsy and JAK2<sup>V617F</sup> Mutation in the Differential Diagnosis Between the "Early" Prepolycythemic Phase of Polycythemia Vera and Essential Thrombocythemia.
- Published in:
- American Journal of Clinical Pathology, 2008, v. 130, n. 3, p. 336, doi. 10.1309/6BQ5K8LHVYAKUAF4
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- Article
Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.637116
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- Article
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
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- European Journal of Haematology, 2010, v. 85, n. 2, p. 170, doi. 10.1111/j.1600-0609.2010.01451.x
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- Article
Red blood cell phenotyping from 3D confocal images using artificial neural networks.
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- PLoS Computational Biology, 2021, v. 17, n. 5, p. 1, doi. 10.1371/journal.pcbi.1008934
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- Article
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.
- Published in:
- Case Reports in Hematology, 2017, p. 1, doi. 10.1155/2017/2769570
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- Article
VEGF Expression Correlates With Microvessel Density in Philadelphia Chromosome-Negative Chronic Myeloproliferative Disorders.
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- American Journal of Clinical Pathology, 2007, v. 128, n. 6, p. 966, doi. 10.1309/FP0N3LC8MBJUFFA6
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- Article
Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis.
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- 2015
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- Publication type:
- journal article
Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30344
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- Article
Severe hemolytic anemia in a newborn: Look out for rare Gardos channelopathies due to KCNN4 mutation.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 8, p. 1, doi. 10.1002/pbc.30325
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- Article
Oxidative status in treatment-naïve essential thrombocythemia: a pilot study in a single center.
- Published in:
- 2017
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- Publication type:
- journal article
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 5, p. 472, doi. 10.1002/ajh.25753
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- Article
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
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- American Journal of Hematology, 2019, v. 94, n. 1, p. 149, doi. 10.1002/ajh.25325
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- Article
Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria.
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- American Journal of Hematology, 2004, v. 77, n. 1, p. 36, doi. 10.1002/ajh.20144
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- Article
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00467
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- Article
Hereditary pyrimidine 5′-nucleotidase deficiency: from genetics to clinical manifestations.
- Published in:
- British Journal of Haematology, 2006, v. 133, n. 2, p. 113, doi. 10.1111/j.1365-2141.2006.05992.x
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- Article
Red cell pyruvate kinase deficiency: molecular and clinical aspects.
- Published in:
- British Journal of Haematology, 2005, v. 130, n. 1, p. 11, doi. 10.1111/j.1365-2141.2005.05527.x
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- Article
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
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- British Journal of Haematology, 2005, v. 129, n. 6, p. 839, doi. 10.1111/j.1365-2141.2005.05520.x
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- Article
Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′-nucleotidase deficiency.
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- British Journal of Haematology, 2003, v. 122, n. 5, p. 847, doi. 10.1046/j.1365-2141.2003.04532.x
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- Article
Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.
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- British Journal of Haematology, 2001, v. 113, n. 1, p. 43, doi. 10.1046/j.1365-2141.2001.02711.x
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- Article
Biological and molecular characterization of PNH-like lymphocytes emerging after Campath-1H therapy.
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- British Journal of Haematology, 2001, v. 112, n. 4, p. 969, doi. 10.1046/j.1365-2141.2001.02677.x
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- Article
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 2, p. 117, doi. 10.1002/pd.1616
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- Article
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1292, doi. 10.1002/humu.21077
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- Article
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
- Published in:
- Frontiers in Physiology, 2022, v. 13, p. 1, doi. 10.3389/fphys.2022.949044
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- Article