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List of works by Maria Leticia Ribeiro

A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane

scientific article published on 16 January 2003

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency

article

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.

scientific article published on 17 October 2009

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

Clonal shifts in MDS – from SF3B1 to EZH2

scientific article published on 04 April 2018

Complex inheritance of chronic haemolytic anaemia

scientific article published on 22 November 2008

Genetic basis of congenital erythrocytosis: mutation update and online databases

scientific article published on 22 October 2013

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 Lepore-Baltimore (delta 68Leu-beta 84Thr) and Hb Lepore-Washington-Boston (delta 87Gln-beta IVS-II-8) in central Portugal and Spanish Alta Extremadura

scientific article published in May 1997

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

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

Malaria: looking for selection signatures in the human PKLR gene region.

scientific article published on 4 April 2010

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

Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles

scientific article published in December 2007

Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis ⬇️

scientific article published on September 21, 2010

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients

article

Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience

article

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

scientific article published on 22 March 2013

RhD variant caused by an in-frame triplet duplication in the RHD gene.

scientific article

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

scientific article

Transient Neonatal Cyanosis Associated With a New Hb F Variant

scientific article published on 01 March 2013

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