Detalhe da pesquisa
1.
Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age.
BMC Public Health
; 24(1): 850, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504224
2.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
3.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317877
4.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510646
5.
Hb F Levels in ß-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the ß-Globin Gene Cluster.
Hemoglobin
; 46(3): 168-175, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35635444
6.
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
Int J Mol Sci
; 23(24)2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555557
7.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
8.
Multi-Locus Models to Address Hb F Variability in Portuguese ß-Thalassemia Carriers.
Hemoglobin
; 44(2): 113-117, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319326
9.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
10.
Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis.
J Pediatr Hematol Oncol
; 45(3): 149-150, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161974
11.
Submitting Novel Globin Gene Variants to Hemoglobin.
Hemoglobin
; 47(4): 135-136, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37920883
12.
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.
Blood Cells Mol Dis
; 60: 18-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519939
13.
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Haematologica
; 101(11): 1306-1318, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27651169
14.
Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Blood Cells Mol Dis
; 54(4): 315-20, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25842369
15.
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Hum Mutat
; 35(1): 15-26, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115288
16.
Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.
Br J Haematol
; 165(4): 519-28, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24533580
17.
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)?).
Eur J Haematol
; 91(4): 361-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23859443
18.
Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.
Pediatr Blood Cancer
; 60(11): 1734-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23776154
19.
Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.
J Pediatr Hematol Oncol
; 35(2): e77-80, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935660
20.
Hb Plasencia [α125(H8)LeuâArg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.
Hemoglobin
; 37(2): 183-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23368878