Helena Almeida

Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

Celeste Bento, Melanie J. Percy, Betty Gardie et al. · Human Mutation · 2013 · 125 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Licínio Manco, Letícia Ribeiro, Valdemar Máximo et al. · British Journal of Haematology · 2000 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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)?)

Celeste Bento, Helena Almeida, Tabita Maia et al. · European Journal Of Haematology · 2013 · 47 citations · Full text

Medicine, Hematology, Molecular Genetics +13

PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients

Licínio Manco, Letícia Ribeiro, Helena Almeida et al. · British Journal of Haematology · 1999 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure

Madeleine Morinière, Letícia Ribeiro, Nicole Dalla Venezia et al. · Blood · 2000 · 26 citations

Life Sciences, Molecular Biology, Molecular Genetics +7