about
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachDifferential HFE gene expression is regulated by alternative splicing in human tissuesHemorheological alterations in sickle cell anemia and their clinical consequences - The role of genetic modulators.Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation.Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic AnemiaNovel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment.Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.Epidemiology of haemoglobin disorders in Europe: an overview.HFE Variants and the Expression of Iron-Related Proteins in Breast Cancer-Associated Lymphocytes and MacrophagesAn overview of molecular basis of iron metabolism regulation and the associated pathologies.Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity.Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemiaHFE gene mutations are extremely rare in Western sub-Saharan Africa.An African origin for an "American black" beta zero-thalassemia mutation?Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters.Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia.Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study.Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism.Haplotypic heterogeneity of beta-thalassaemia IVS I-1 (G-->A) mutation in southern Portugal.Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patients.HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosisSickle cell disease severity scoring: a yet unsolved problemThe role of HFE mutations on iron metabolism in beta-thalassemia carriersThe geographic pattern of beta-thalassaemia mutations in the Portuguese populationNonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulationHb Himeji [alpha 2 beta 2(140)(H18)Ala----Asp] is linked to different haplotypes in Japanese and Portuguese familiesbeta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factorsBeta-thalassaemia unlinked to the beta-globin gene interacts with sickle-cell trait in a Portuguese family[The molecular basis of dominantly inherited beta-thalassemia]Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptideCompound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletionHb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotypeGenetic studies suggest a novel Portuguese origin for hemoglobin Porto AlegreHb Yaoundé [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese familyMutational spectrum of delta-globin gene in the Portuguese populationHemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutationThe functional significance of E277K and V295A HFE mutations
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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type
label
Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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prefLabel
Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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Paula Faustino
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P106
P1153
8158641100
P21
P31
P496
0000-0002-6269-4867