Lista de obras - Licínio Manco - Dominio Público Uruguay

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

article

Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals

scientific article published on 06 September 2019

Analysis of TPI gene promoter variation in three sub-Saharan Africa population samples

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Assessment of obesity and abdominal obesity among Portuguese children.

artículo científico publicado en 2012

Association of 5-HTTLPR genotypes with antisocial behavior in response to childhood environment: A study in young adults of Portuguese origin

artículo científico publicado en 2017

Association of FTO polymorphisms with obesity and obesity-related outcomes in Portuguese children

artículo científico publicado en 2013

Association of polymorphisms in 5-HTT (SLC6A4) and MAOA genes with measures of obesity in young adults of Portuguese origin

artículo científico publicado en 2015

Association study of common functional genetic polymorphisms in SLC6A4 (5-HTT) and MAOA genes with obesity in portuguese children

scientific article published on 18 June 2020

Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children

artículo científico publicado en 2014

Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women

scientific article published on 15 January 2019

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman

artículo científico publicado en 2011

Complex inheritance of chronic haemolytic anaemia

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study

artículo científico publicado en 2014

G6PD deficient alleles and haplotype analysis of human G6PD locus in São Tomé e Príncipe (West Africa).

artículo científico publicado en 2007

Gene symbol: NT5C3. Disease: haemolytic anemia.

artículo científico publicado en 2005

Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.

artículo científico publicado en 2006

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency

artículo científico publicado en 2008

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster

artículo científico publicado en 2022

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

artículo científico publicado en 2016

High AMY1 copy number protects against obesity in Portuguese young adults

article

High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).

artículo científico publicado en 2011

Human erythrocyte pyrimidine 5′-nucleotidase isozymes: Effect of sulfhydryl reagents and electrophoretic discrimination

artículo científico publicado en 1993

Influence of physical activity on the association between the FTO variant rs9939609 and adiposity in young adults

artículo científico publicado en 2015

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

artículo científico publicado en 2017

Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations

artículo científico publicado en 2006

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers

artículo científico publicado en 2020

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.

artículo científico publicado en 2007

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients

article

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

artículo científico publicado en 2010

Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years

artículo científico publicado en 2019

Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.

artículo científico publicado en 2015

Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population

artículo científico publicado en 2017

Population genetics of four PKLR intragenic polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea).

artículo científico publicado en 2001

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation

scientific article published on 23 December 2015

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304.

artículo científico publicado en 2017

The contribution of genetics and environment to obesity

artículo científico publicado en 2017

The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults

artículo científico publicado en 2016

The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Triosephosphate isomerase deficiency: a patient with Val231Met mutation

artículo científico publicado en 2011

Triosephosphate isomerase gene promoter variation: -5G/A and -8G/A polymorphisms in clinical malaria groups in two African populations

artículo científico publicado en 2015

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.

artículo científico publicado en 2005

Y-chromosome diversity in central Portugal reveals signatures of ancient maritime expansions

artículo científico publicado en 2013

Lista de obras de Licínio Manco

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

Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals

Analysis of TPI gene promoter variation in three sub-Saharan Africa population samples

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

Assessment of obesity and abdominal obesity among Portuguese children.

Association of 5-HTTLPR genotypes with antisocial behavior in response to childhood environment: A study in young adults of Portuguese origin

Association of FTO polymorphisms with obesity and obesity-related outcomes in Portuguese children

Association of polymorphisms in 5-HTT (SLC6A4) and MAOA genes with measures of obesity in young adults of Portuguese origin

Association study of common functional genetic polymorphisms in SLC6A4 (5-HTT) and MAOA genes with obesity in portuguese children

Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children

Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman

Complex inheritance of chronic haemolytic anaemia

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

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

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

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study

G6PD deficient alleles and haplotype analysis of human G6PD locus in São Tomé e Príncipe (West Africa).

Gene symbol: NT5C3. Disease: haemolytic anemia.

Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency

Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study

High AMY1 copy number protects against obesity in Portuguese young adults

High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).

Human erythrocyte pyrimidine 5′-nucleotidase isozymes: Effect of sulfhydryl reagents and electrophoretic discrimination

Influence of physical activity on the association between the FTO variant rs9939609 and adiposity in young adults

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

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

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene

Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations

Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers

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

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

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

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

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

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

Novel human pathological mutations. Gene symbol: TPI1. Disease: triosephosphate isomerase deficiency.

PK-LR gene mutations in pyruvate kinase deficient Portuguese patients

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities

Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years

Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.

Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population

Population genetics of four PKLR intragenic polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea).

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria

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

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

Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304.

The contribution of genetics and environment to obesity

The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults

The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children

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

Triosephosphate isomerase deficiency: a patient with Val231Met mutation

Triosephosphate isomerase gene promoter variation: -5G/A and -8G/A polymorphisms in clinical malaria groups in two African populations

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.

Y-chromosome diversity in central Portugal reveals signatures of ancient maritime expansions