Lista de obras - Celeste Bento - Dominio Público Uruguay

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.

artículo científico publicado en 2016

Autoantibody repertoires to brain tissue in autism nuclear families

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Clinical relevance of erythrocyte ferritin in microcytic anemias

artículo científico publicado en 2015

Complex inheritance of chronic haemolytic anaemia

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Erythrocytosis associated with a novel missense mutation in the BPGM gene

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Gene symbol: HBA1. Disease: Haemoglobin alpha 1

artículo científico publicado en 2005

Genetic basis of congenital erythrocytosis

artículo científico publicado en 2018

Genetic basis of congenital erythrocytosis: mutation update and online databases

artículo científico publicado en 2013

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

artículo científico publicado en 1997

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

Hereditary xerocytosis, a misleading anemia

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 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)?).

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Outcomes of pregnancy in patients with congenital erythrocytosis

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Transient Neonatal Cyanosis Associated With a New Hb F Variant

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Lista de obras de Celeste Bento

A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

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

A novel haemoglobin variant mimicking cyanotic congenital heart disease.

Autoantibody repertoires to brain tissue in autism nuclear families

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

Clinical relevance of erythrocyte ferritin in microcytic anemias

Complex inheritance of chronic haemolytic anaemia

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

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

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

Erythrocytosis associated with a novel missense mutation in the BPGM gene

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

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

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

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

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

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

Gene symbol: HBA1. Disease: Haemoglobin alpha 1

Genetic basis of congenital erythrocytosis

Genetic basis of congenital erythrocytosis: mutation update and online databases

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

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

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

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.

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

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

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

Hereditary xerocytosis, a misleading anemia

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

ITHANET: Information and database community portal for haemoglobinopathies

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

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

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

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

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)?).

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

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

Outcomes of pregnancy in patients with congenital erythrocytosis

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

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

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

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

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

The role of PHD2 mutations in the pathogenesis of erythrocytosis

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

Transient Neonatal Cyanosis Associated With a New Hb F Variant

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

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

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