Lista de obras - Claudine Lapoumeroulie - Dominio Público Uruguay

?-Globin loci in homozygous ?-thalassemia intermedia

artículo científico publicado en 1983

A haplotype-linked four base pair deletion upstream of the A gamma globin gene coincides with decreased gene expression.

artículo científico publicado en 1992

A microfluidic approach to study the effect of mechanical stress on erythrocytes in sickle cell disease

artículo científico publicado en 2018

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

artículo científico publicado en 1988

A novel mechanism for thalassaemia intermedia

artículo científico publicado en 2002

A novel sickle cell mutation of yet another origin in Africa: the Cameroon type

artículo científico publicado en 1992

A stepwise α-thalassemia screening strategy in high-prevalence areas.

artículo científico publicado en 2013

Analysis of the 5' flanking sequence of the G gamma globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu beta S haplotype

artículo científico publicado en 1992

Anthropogenetical analysis of abnormal human alpha-globin gene cluster arrangement on chromosome 16.

artículo científico publicado en 2000

Atypical ?s haplotypes are generated by diverse genetic mechanisms

artículo científico publicado en 2000

Cell-derived microparticles and sickle cell disease chronic vasculopathy in sub-Saharan Africa: A multinational study

artículo científico publicado en 2020

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

artículo científico publicado en 2014

Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients

artículo científico publicado en 1985

Cross-species characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene reveals multiple levels of regulation.

artículo científico publicado en 1997

Decreased plasma endothelin-1 levels in children with sickle cell disease treated with hydroxyurea.

artículo científico publicado en 2005

Differential modulation of adhesion molecule expression by hydroxycarbamide in human endothelial cells from the micro- and macrocirculation: potential implications in sickle cell disease vasoocclusive events

artículo científico publicado en 2011

Effect of hydroxyurea on adhesion proteins in sickle cell anemia

artículo científico publicado en 2009

Effects of Poloxamer 188 on red blood cell membrane properties in sickle cell anaemia

artículo científico publicado en 2016

Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections

artículo científico publicado en 2009

Endothelial cells do not express GSTA1: potential relevance to busulfan-mediated endothelial damage during haematopoietic stem cell transplantation.

artículo científico publicado en 2008

Erythroid Adhesion Molecules in Sickle Cell Anaemia Infants: Insights Into Early Pathophysiology

artículo científico publicado en 2014

Expression of a beta thalassemia gene with abnormal splicing

artículo científico publicado en 1987

Four new haplotypes observed in Algerian beta-thalassemia patients.

artículo científico publicado en 1983

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.

artículo científico publicado en 1999

Glucose-6-phosphate dehydrogenase and hemoglobin variants in Kel Kummer Tuareg and related groups. Indirect evidence for alpha-thalassemia trait

artículo científico publicado en 1982

Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations.

artículo científico publicado en 1997

Haplotypes in tribal Indians bearing the sickle gene: evidence for the unicentric origin of the beta S mutation and the unicentric origin of the tribal populations of India

artículo científico publicado en 1989

Hb J Lome beta 59 (E3) Lys is replaced by Asn associated with HPFH in a Togolese family

artículo científico publicado el 1 de enero de 1979

High genetic polymorphism of hemoglobin disorders in Laos

artículo científico publicado en 1979

Homozygous deletional α+thalassaemia associated with unequal expression of the two remaining α1genes (α1Aand α1Q)

article

Hydroxycarbamide decreases sickle reticulocyte adhesion to resting endothelium by inhibiting endothelial lutheran/basal cell adhesion molecule (Lu/BCAM) through phosphodiesterase 4A activation

artículo científico publicado en 2014

Hydroxyurea downregulates endothelin-1 gene expression and upregulates ICAM-1 gene expression in cultured human endothelial cells.

artículo científico publicado en 2003

Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections.

artículo científico publicado en 2003

Modulation of erythroid adhesion receptor expression by hydroxyurea in children with sickle cell disease

artículo científico publicado en 2008

Molecular basis of alpha-thalassemia in Sicily

artículo científico publicado en 1997

Molecular pathology of beta thalassemia intermedia

artículo científico publicado en 1993

New insights into red cell rheology and adhesion in patients with sickle cell anaemia during vaso-occlusive crises

scientific article published on 22 November 2018

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

artículo científico publicado en 2018

Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa

artículo científico publicado en 1991

Nucleotide sequences of the genes coding for the TEM-like beta-lactamases IRT-1 and IRT-2 (formerly called TRI-1 and TRI-2).

artículo científico publicado en 1994

Pathophysiology of sickle cell disease

artículo científico

Prior exposure of endothelial cells to hydroxycarbamide alters the flow dynamics and adhesion of sickle red blood cells

artículo científico publicado en 2014

Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study

scientific article published on 21 September 2018

Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene

artículo científico publicado en 1996

Sequence correction and reassignment of the TaqI polymorphic site in the human inter-gamma-globin gene region, an African-specific marker.

artículo científico publicado en 1994

Titration curves of polypeptide chains by combined isoelectric focusing-electrophoresis in 8 M urea

artículo científico publicado en 1979

Transcriptional regulation of rat alpha 1-acid glycoprotein gene by phenobarbital.

artículo científico publicado en 1994

Variants of the mannose-binding lectin gene in the Benin population: heterozygosity for the p.G57E allele may confer a selective advantage

artículo científico publicado en 2007

Variants of the mannose-binding lectin gene in the Benin population: heterozygosity for the p.G57E allele may confer a selective advantage. 2007.

artículo científico publicado en 2009

Vaso-occlusion in sickle cell anemia: role of interactions between blood cells and endothelium.

artículo científico publicado en 2004

Warfarin pharmacogenetics: development of a dosing algorithm for Omani patients

artículo científico publicado en 2012

Warfarin pharmacogenetics: polymorphisms of the CYP2C9, CYP4F2, and VKORC1 loci in a genetically admixed Omani population.

artículo científico publicado en 2012

[Intermediate homozygous beta-thalassemia with high fetal hemoglobin synthesis. Molecular analysis]

artículo científico publicado en 1989

[Thalassaemia intermedia. Clinical and laboratory study. Therapeutic suggestions (author's transl)]

scientific article published on 01 January 1982

β Thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site

artículo científico publicado en 1986

Lista de obras de Claudine Lapoumeroulie

?-Globin loci in homozygous ?-thalassemia intermedia

A haplotype-linked four base pair deletion upstream of the A gamma globin gene coincides with decreased gene expression.

A microfluidic approach to study the effect of mechanical stress on erythrocytes in sickle cell disease

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

A novel mechanism for thalassaemia intermedia

A novel sickle cell mutation of yet another origin in Africa: the Cameroon type

A stepwise α-thalassemia screening strategy in high-prevalence areas.

Analysis of the 5' flanking sequence of the G gamma globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu beta S haplotype

Anthropogenetical analysis of abnormal human alpha-globin gene cluster arrangement on chromosome 16.

Atypical ?s haplotypes are generated by diverse genetic mechanisms

Cell-derived microparticles and sickle cell disease chronic vasculopathy in sub-Saharan Africa: A multinational study

Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.

Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients

Cross-species characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene reveals multiple levels of regulation.

Decreased plasma endothelin-1 levels in children with sickle cell disease treated with hydroxyurea.

Differential modulation of adhesion molecule expression by hydroxycarbamide in human endothelial cells from the micro- and macrocirculation: potential implications in sickle cell disease vasoocclusive events

Effect of hydroxyurea on adhesion proteins in sickle cell anemia

Effects of Poloxamer 188 on red blood cell membrane properties in sickle cell anaemia

Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections

Endothelial cells do not express GSTA1: potential relevance to busulfan-mediated endothelial damage during haematopoietic stem cell transplantation.

Erythroid Adhesion Molecules in Sickle Cell Anaemia Infants: Insights Into Early Pathophysiology

Expression of a beta thalassemia gene with abnormal splicing

Four new haplotypes observed in Algerian beta-thalassemia patients.

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.

Glucose-6-phosphate dehydrogenase and hemoglobin variants in Kel Kummer Tuareg and related groups. Indirect evidence for alpha-thalassemia trait

Haemoglobin D-Ouled Rabah among the Mozabites: a relevant variant to trace the origin of Berber-speaking populations.

Haplotypes in tribal Indians bearing the sickle gene: evidence for the unicentric origin of the beta S mutation and the unicentric origin of the tribal populations of India

Hb J Lome beta 59 (E3) Lys is replaced by Asn associated with HPFH in a Togolese family

High genetic polymorphism of hemoglobin disorders in Laos

Homozygous deletional α+thalassaemia associated with unequal expression of the two remaining α1genes (α1Aand α1Q)

Hydroxycarbamide decreases sickle reticulocyte adhesion to resting endothelium by inhibiting endothelial lutheran/basal cell adhesion molecule (Lu/BCAM) through phosphodiesterase 4A activation

Hydroxyurea downregulates endothelin-1 gene expression and upregulates ICAM-1 gene expression in cultured human endothelial cells.

Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections.

Modulation of erythroid adhesion receptor expression by hydroxyurea in children with sickle cell disease

Molecular basis of alpha-thalassemia in Sicily

Molecular pathology of beta thalassemia intermedia

New insights into red cell rheology and adhesion in patients with sickle cell anaemia during vaso-occlusive crises

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa

Nucleotide sequences of the genes coding for the TEM-like beta-lactamases IRT-1 and IRT-2 (formerly called TRI-1 and TRI-2).

Pathophysiology of sickle cell disease

Prior exposure of endothelial cells to hydroxycarbamide alters the flow dynamics and adhesion of sickle red blood cells

Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study

Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene

Sequence correction and reassignment of the TaqI polymorphic site in the human inter-gamma-globin gene region, an African-specific marker.

Titration curves of polypeptide chains by combined isoelectric focusing-electrophoresis in 8 M urea

Transcriptional regulation of rat alpha 1-acid glycoprotein gene by phenobarbital.

Variants of the mannose-binding lectin gene in the Benin population: heterozygosity for the p.G57E allele may confer a selective advantage

Variants of the mannose-binding lectin gene in the Benin population: heterozygosity for the p.G57E allele may confer a selective advantage. 2007.

Vaso-occlusion in sickle cell anemia: role of interactions between blood cells and endothelium.

Warfarin pharmacogenetics: development of a dosing algorithm for Omani patients

Warfarin pharmacogenetics: polymorphisms of the CYP2C9, CYP4F2, and VKORC1 loci in a genetically admixed Omani population.

[Intermediate homozygous beta-thalassemia with high fetal hemoglobin synthesis. Molecular analysis]

[Thalassaemia intermedia. Clinical and laboratory study. Therapeutic suggestions (author's transl)]

β Thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site