Found: 25
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JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients.
- Published in:
- International Journal of Hematology, 2014, v. 99, n. 1, p. 32, doi. 10.1007/s12185-013-1475-9
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- Publication type:
- Article
Intragenic haplotype analysis of common HFE mutations in the Portuguese population.
- Published in:
- Journal of Genetics, 2015, v. 94, n. 2, p. 329, doi. 10.1007/s12041-015-0510-4
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- Publication type:
- Article
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15920, doi. 10.3390/ijms232415920
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- Publication type:
- Article
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference.
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- British Journal of Haematology, 2018, v. 183, n. 4, p. 648, doi. 10.1111/bjh.15600
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- Article
Outcomes of pregnancy in patients with congenital erythrocytosis.
- Published in:
- British Journal of Haematology, 2015, v. 170, n. 4, p. 586, doi. 10.1111/bjh.13313
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- Publication type:
- Article
Polycythaemia-inducing mutations in the erythropoietin receptor ( EPOR): mechanism and function as elucidated by epidermal growth factor receptor- EPOR chimeras.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 4, p. 519, doi. 10.1111/bjh.12782
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- Publication type:
- Article
Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age.
- Published in:
- BMC Public Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12889-024-17761-1
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- Publication type:
- Article
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
- Published in:
- 2016
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- Publication type:
- Case Study
Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 243, doi. 10.1007/s00439-006-0301-3
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- Publication type:
- Article
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
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- European Journal of Haematology, 2013, v. 91, n. 4, p. 361, doi. 10.1111/ejh.12170
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- Publication type:
- Article
Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.
- Published in:
- 2010
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- Publication type:
- Letter
Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene.
- Published in:
- 2018
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- Publication type:
- Case Study
Evolutionary Constraints in the β-Globin Cluster: The Signature of Purifying Selection at the δ-Globin (HBD) Locus and Its Role in Developmental Gene Regulation.
- Published in:
- Genome Biology & Evolution, 2013, v. 5, n. 3, p. 559, doi. 10.1093/gbe/evt029
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- Publication type:
- Article
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.79713
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- Publication type:
- Article
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
- Published in:
- Acta Médica Portuguesa, 2023, v. 36, n. 2, p. 81, doi. 10.20344/amp.17584
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- Publication type:
- Article
TALASSEMIA β HETEROZIGOTICA.
- Published in:
- Acta Médica Portuguesa, 2011, v. 24, n. 4, p. 633
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- Publication type:
- Article
Complex inheritance of chronic haemolytic anaemia.
- Published in:
- 2009
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- Publication type:
- Letter
Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G→C and IVS8(+2)T→G causing pyruvate kinase deficiency.
- Published in:
- British Journal of Haematology, 2002, v. 118, n. 3, p. 927, doi. 10.1046/j.1365-2141.2002.03631_9.x
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- Publication type:
- Article
Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.
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- Pediatric Blood & Cancer, 2013, v. 60, n. 11, p. 1734, doi. 10.1002/pbc.24625
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- Publication type:
- Article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280
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- Publication type:
- Article
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases.
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- Human Mutation, 2014, v. 35, n. 1, p. 15, doi. 10.1002/humu.22448
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- Publication type:
- Article
A Rare Cause of Cyanosis Since Birth: Hb M-Iwate.
- Published in:
- Turkish Journal of Hematology, 2019, v. 36, n. 4, p. 299, doi. 10.4274/tjh.galenos.2019.2019.0123
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- Publication type:
- Article
First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.
- Published in:
- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 372, doi. 10.4274/tjh.2017.0213
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- Publication type:
- Article
Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases.
- Published in:
- 2022
- By:
- Publication type:
- Case Study