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35 results for Manco,+Licínio

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Select record 21
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing
Author / Creator:Fidalgo, Teresa ; Martinho, Patrícia ; Pinto, Catarina S. ; Oliveira, Ana C. ; Salvado, Ramon ; Borràs, Nina ; Coucelo, Margarida ; Manco, Licínio ; Maia, Tabita ; Mendes, M. João ; Del Orbe Barreto, Rafael ; Corrales, Irene ; Vidal, Francisco ; Ribeiro, M. Letícia
Publisher:United States: Elsevier Inc
Journal title:Research and practice in thrombosis and haemostasis, 2017-07, Vol.1 (1), p.69-80
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Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption
Author / Creator:Manco, Licínio ; Pires, Sara ; Lopes, Ana Isabel ; Figueiredo, Ima ; Albuquerque, David ; Alvarez, Manuela ; Rocha, Jorge ; Abade, Augusto
Publisher:England: Informa Healthcare
Journal title:Annals of human biology, 2013-03, Vol.40 (2), p.205-208
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Quantitative proteomics for the analysis of Plasmodium falciparum and its red blood cell host - a preliminary study
Author / Creator:Machado, Patrícia ; Vaz, Tiago R ; Nogueira, Fátima ; Rodrigues, João ; Manco, Licínio ; Ribeiro, Letícia ; Bergstrom, Ed ; Ashford, David ; Vitorino, Rui ; Thomas-Oates, Jane ; Thomas, Jerry ; Arez, Ana P
Publisher:London: BioMed Central
Journal title:Malaria journal, 2014-09, Vol.13 (S1), p.74-74, Article P74
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Intragenic haplotype analysis of common HFE mutations in the Portuguese population
Author / Creator:TOSTE, SANDRA ; RELVAS, LUÍS ; PINTO, CATARINA ; BENTO, CELESTE ; ABADE, AUGUSTO ; RIBEIRO, M. LETÍCIA ; MANCO, LICÍNIO
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2015-06, Vol.94 (2), p.329-333
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Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children
Author / Creator:Albuquerque, David ; Nóbrega, Clévio ; Manco, Licínio
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-01, Vol.8 (1), p.e54370-e54370
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A Blood–Bone–Tooth Model for Age Prediction in Forensic Contexts
Author / Creator:Correia Dias, Helena ; Manco, Licínio ; Corte Real, Francisco ; Cunha, Eugénia
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2021-12, Vol.10 (12), p.1312
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The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods
Author / Creator:Martiniano, Rui ; Cassidy, Lara M. ; Ó'Maoldúin, Ros ; McLaughlin, Russell ; Silva, Nuno M. ; Manco, Licinio ; Fidalgo, Daniel ; Pereira, Tania ; Coelho, Maria J. ; Serra, Miguel ; Burger, Joachim ; Parreira, Rui ; Moran, Elena ; Valera, Antonio C. ; Porfirio, Eduardo ; Boaventura, Rui ; Silva, Ana M. ; Bradley, Daniel G.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2017-07, Vol.13 (7), p.e1006852-e1006852
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SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples
Author / Creator:Albuquerque, David ; Manco, Licínio ; Loua, Kovana M. ; Arez, Ana Paula ; Trovoada, Maria de Jesus ; Relvas, Luís ; Millimono, Tamba S. ; Rath, Silvia L. ; Lopes, Dinora ; Nogueira, Fátima ; Varandas, Luís ; Alvarez, Manuela ; Ribeiro, M. Letícia
Publisher:England: Informa Healthcare
Journal title:Annals of human biology, 2011-05, Vol.38 (3), p.378-381
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Analysis of Human Y Chromosome Haplogroup E-M81 Sublineages in Portuguese Samples
Author / Creator:Bouabdallah, Selsabil ; Alves, Diana ; Manco, Licínio
Publisher:Wayne State University Press
Journal title:Human biology, 2024-09, Vol.94 (4), p.179-187
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G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)
Author / Creator:Manco, Licínio ; Botigué, Laura R. ; Ribeiro, M. Letícia ; Abade, Augusto
Publisher:United States: Wayne State University Press
Journal title:Human biology, 2007-12, Vol.79 (6), p.679-686
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Select record 31
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Pyruvate Kinase Deficiency in Sub-Saharan Africa: Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria
Author / Creator:Machado, Patrícia ; Manco, Licínio ; Gomes, Cláudia ; Mendes, Cristina ; Fernandes, Natércia ; Salomé, Graça ; Sitoe, Luis ; Chibute, Sérgio ; Langa, José ; Ribeiro, Letícia ; Miranda, Juliana ; Cano, Jorge ; Pinto, João ; Amorim, António ; do Rosário, Virgílio E. ; Arez, Ana Paula
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-10, Vol.7 (10), p.e47071-e47071
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Select record 32
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Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency
Author / Creator:Pereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2016-09, Vol.95 (9), p.1551-1553
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Select record 33
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Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
Author / Creator:Kirschner, Martin ; Heinen, Inga Rebecca ; Koschmieder, Steffen ; Manco, Licinio ; Bento, Celeste ; Eggermann, Thomas ; Kurth, Ingo ; Jost, Edgar ; Brümmendorf, Tim H. ; Fuchs, Roland
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2022-03, Vol.10 (3), p.n/a
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Select record 34
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Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency
Author / Creator:Manco, Licinio ; Ribeiro, M Leticia
Publisher:Germany
Journal title:Human genetics, 2009-04, Vol.125 (3), p.340-340
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Select record 35
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Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)
Author / Creator:MANCO, LICÍNIO ; OLIVEIRA, ANA LUÍSA ; GOMES, CATARINA ; GRANJO, ANDRÉ ; DE JESUS TROVOADA, MARIA ; RIBEIRO, M. LETÍCIA ; ABADE, AUGUSTO ; AMORIM, ANTÓNIO
Publisher:United States: Wayne State University Press
Journal title:Human biology, 2001-06, Vol.73 (3), p.467-474
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Select record 36
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Combined study of ADAMTS 13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing
Author / Creator:Fidalgo, Teresa ; Martinho, Patrícia ; Pinto, Catarina S ; Oliveira, Ana C ; Salvado, Ramon ; Borràs, Nina ; Coucelo, Margarida ; Manco, Licínio ; Tabita Maia ; M. João Mendes ; Rafael Del Orbe Barreto ; Corrales, Irene ; Vidal, Francisco ; Ribeiro, M Letícia
Publisher:Kidlington: Elsevier Limited
Journal title:Research and practice in thrombosis and haemostasis, 2017-07, Vol.1 (1), p.69-80
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Select record 37
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Gene symbol: PKLR. Disease: Pyruvate kinase deficiency
Author / Creator:Manco, Licínio ; Relvas, Luís ; Rebelo, Umbelina ; Vidán, Julia ; Ribeiro, M Letícia
Publisher:Germany
Journal title:Human genetics, 2008-10, Vol.124 (3), p.319-319
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Select record 38
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Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency
Author / Creator:Manco, Licínio ; Trovoada, M J ; Ribeiro, M Letícia
Publisher:Germany
Journal title:Human genetics, 2009-04, Vol.125 (3), p.340
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Select record 39
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Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling
Author / Creator:Kirschner, Martin ; Heinen, Inga Rebecca ; Koschmieder, Steffen ; Manco, Licinio ; Bento, Celeste ; Eggermann, Thomas ; Kurth, Ingo ; Jost, Edgar ; Brümmendorf, Tim H ; Fuchs, Roland
Publisher:England
Journal title:Clinical case reports, 2022-03, Vol.10 (3), p.e05501
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Select record 40
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Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency
Author / Creator:Manco, Licinio ; Ribeiro, M Leticia
Publisher:Germany
Journal title:Human genetics, 2007-06, Vol.121 (5), p.648-648
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Showing 21 to 40 of 35 results

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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing

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Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

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Quantitative proteomics for the analysis of Plasmodium falciparum and its red blood cell host - a preliminary study

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Intragenic haplotype analysis of common HFE mutations in the Portuguese population

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Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children

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A Blood–Bone–Tooth Model for Age Prediction in Forensic Contexts

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The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods

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SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples

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Analysis of Human Y Chromosome Haplogroup E-M81 Sublineages in Portuguese Samples

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G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)

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Pyruvate Kinase Deficiency in Sub-Saharan Africa: Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria

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

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Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

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Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency

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Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)

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Combined study of ADAMTS 13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing

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Gene symbol: PKLR. Disease: Pyruvate kinase deficiency

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Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency

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Novel homozygous nonsense mutation in the P5'N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

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Novel human pathological mutations. Gene symbol: G6PD. Disease: glucose-6-phosphate dehydrogenase deficiency

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