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Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age

BMC public health, 2024-03, Vol.24 (1), p.850-850, Article 850

2024

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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Haematologica (Roma), 2016-11, Vol.101 (11), p.1306-1318

2016

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A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

International journal of molecular sciences, 2022-12, Vol.23 (24), p.15920

2022

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Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry

Journal of genetics, 2024-10, Vol.103 (2), Article 32

2024

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Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa

Acta médica portuguesa, 2022-09, Vol.35 (13)

2022

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A Rare Cause of Cyanosis Since Birth: Hb M-Iwate

Turkish journal of haematology, 2019-11, Vol.36 (4), p.299-301

2019

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Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency

Annals of hematology, 2016-09, Vol.95 (9), p.1551-1553

2016

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PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL‐WORLD STUDY (ASCEND)

HemaSphere, 2023-08, Vol.7 (S3), p.e22777fd-n/a

2023

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Hemoglobinopathies, Country Update: Portugal

Hemoglobin, 2019-11, Vol.43 (6), p.307-307

Bento, Celeste

2019

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5610614 ASSESSING PHYSICAL, SOCIAL AND EMOTIONAL IMPACT OF SICKLE CELL DISEASE IN PORTUGUESE PATIENTS: AN OBSERVATIONAL, MULTICENTER STUDY (ASCEND)

HemaSphere, 2023-04, Vol.7 (S1), p.49-49

2023

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Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels

Human genetics, 2007-04, Vol.121 (2), p.243-256

2007

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Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

EJHaem, 2022-08, Vol.3 (3), p.989-991

2022

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Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

Clinical case reports, 2022-03, Vol.10 (3), p.n/a

2022

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JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients

International journal of hematology, 2014, Vol.99 (1), p.32-40

2014

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First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey

Turkish journal of haematology, 2017-12, Vol.34 (4), p.372-373

2017

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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)?)

European journal of haematology, 2013-10, Vol.91 (4), p.361-368

2013

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A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

Internal Medicine, 2015, Vol.54(18), pp.2389-2393

2015

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β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent

Haematologica (Roma), 2013-01, Vol.98 (1), p.e4-e6

2013

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Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis

Journal of pediatric hematology/oncology, 2023-04, Vol.45 (3), p.149-150

2023

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Erythrocytosis associated with a novel missense mutation in the BPGM gene

Haematologica (Roma), 2014-10, Vol.99 (10), p.e201-e204

2014

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Nature genetics, 2015-07, Vol.47 (7), p.717-726

2015

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Association study of common KLF1 variants with Hb F and Hb A 2 levels in β-thalassaemia carriers of Portuguese ancestry

Journal of genetics, 2024, Vol.103

2024

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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Human mutation, 2022-08, Vol.43 (8), p.1089-1096

2022

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Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies

Evaluation of in silico predictors on short nucleotide variants in HBA1 , HBA2 , and HBB associated with haemoglobinopathies

Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry

Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa

A Rare Cause of Cyanosis Since Birth: Hb M-Iwate

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency

PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL‐WORLD STUDY (ASCEND)

Hemoglobinopathies, Country Update: Portugal

5610614 ASSESSING PHYSICAL, SOCIAL AND EMOTIONAL IMPACT OF SICKLE CELL DISEASE IN PORTUGUESE PATIENTS: AN OBSERVATIONAL, MULTICENTER STUDY (ASCEND)

Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels

Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients

First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey

P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE

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)?)

A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent

Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Association study of common KLF1 variants with Hb F and Hb A 2 levels in β-thalassaemia carriers of Portuguese ancestry

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

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