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List of works by Celeste Bento

A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

scientific article published on 15 September 2015

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

scientific article published on 22 July 2019

A novel haemoglobin variant mimicking cyanotic congenital heart disease

scientific article

Autoantibody repertoires to brain tissue in autism nuclear families

scientific article

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman

scientific article published on 11 March 2011

Clinical relevance of erythrocyte ferritin in microcytic anemias

scientific article published on 03 January 2015

Complex inheritance of chronic haemolytic anaemia

scientific article published on 22 November 2008

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

scientific article published on 24 June 2016

Congenital erythrocytosis - discover of a new mutation in the EGLN1 gene.

scientific article published on 21 April 2018

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

scientific article

Erythrocytosis associated with a novel missense mutation in the BPGM gene

scientific article published on 11 July 2014

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.

scientific article published on 14 June 2013

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.

scientific article published on 3 January 2007

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

scientific article published on January 2013

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

scientific article

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

scientific article published on 23 August 2017

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

scientific article

Gene symbol: HBA1. Disease: Haemoglobin alpha 1

scientific article published on 01 July 2005

Genetic basis of congenital erythrocytosis

scientific article published on 01 May 2018

Genetic basis of congenital erythrocytosis: mutation update and online databases

scientific article published on 22 October 2013

Genetic heterogeneity of beta-thalassemia in populations of the Iberian Peninsula.

scientific article

Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma

scientific article published on 06 November 2015

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster

scientific article published in 2022

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases

scientific article

Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population

scientific article published on 31 January 2013

Hb Vila Real [beta36(C2)Pro-->His]: a newly discovered high oxygen affinity variant

scientific article published on 01 February 2000

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

scientific article published on 11 June 2016

Hereditary xerocytosis, a misleading anemia

scientific article published in June 2016

High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).

scientific article published on 19 September 2011

ITHANET: Information and database community portal for haemoglobinopathies

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

scientific article published on 11 June 2018

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

scientific article published in June 2015

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

scientific article

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

scientific article published in June 2007

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)?).

scientific article published on 20 August 2013

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers

scientific article published on 22 April 2020

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

scientific article published on 18 October 2018

Outcomes of pregnancy in patients with congenital erythrocytosis

scientific article published on 02 March 2015

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.

scientific article published on 18 February 2014

Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.

scientific article published on 21 February 2015

Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain

scientific article published on 22 March 2013

Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury

scientific article published on 01 December 2011

Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation

scientific article published on 23 December 2015

The role of PHD2 mutations in the pathogenesis of erythrocytosis

scientific article

The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants

scientific article published on 01 November 2006

Transient Neonatal Cyanosis Associated With a New Hb F Variant

scientific article published on 01 March 2013

Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism

scientific article

[Heterozygous β thalassemia with triplication of the α globin gene]

scientific article published on 01 July 2011

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

scientific article

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