Lista de obras - Stephan Menzel - Dominio Público Uruguay

: a genetic model of fetal hemoglobin in sickle cell disease

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

article

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

artículo científico publicado en 2007

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

artículo científico publicado en 1996

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

artículo científico publicado en 2001

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

artículo científico publicado en 2009

A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia.

artículo científico publicado en 2018

A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability

artículo científico publicado en 2010

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

artículo científico publicado en 2016

Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia

artículo científico publicado en 2006

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

artículo científico publicado en 2003

Association of sickle avascular necrosis with bone morphogenic protein 6

artículo científico publicado en 2008

Associations between environmental factors and hospital admissions for sickle cell disease.

artículo científico publicado en 2016

Circulating DNA: a potential marker of sickle cell crisis

artículo científico publicado en 2007

Control of fetal hemoglobin: new insights emerging from genomics and clinical implications

artículo científico publicado en 2009

Dinucleotide repeat polymorphism at D9S328E (EST hbc220).

artículo científico publicado en 1994

Discovering the genetics underlying foetal haemoglobin production in adults.

artículo científico publicado en 2008

Environmental determinants of severity in sickle cell disease

artículo científico publicado en 2015

Evidence From a Large U.K. Family Collection That Genes Influencing Age of Onset of Type 2 Diabetes Map to Chromosome 12p and to the MODY3/NIDDM2 Locus on 12q24

article

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

artículo científico publicado en 2001

Experimental generation of SNP haplotype signatures in patients with sickle cell anaemia

artículo científico publicado en 2010

F cell numbers are associated with an X-linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease

artículo científico publicado en 2020

Fetal Hemoglobin is Associated with Peripheral Oxygen Saturation in Sickle Cell Disease in Tanzania

artículo científico

Genetic and molecular analyses of complex metabolic disorders: genetic linkage.

artículo científico publicado en 2002

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

artículo científico publicado en 2015

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

artículo científico publicado en 2013

Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia.

artículo científico publicado en 2015

Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania

artículo científico publicado en 2014

Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients

artículo científico publicado en 2009

Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia

artículo científico publicado en 2010

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania

artículo científico publicado en 2014

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

artículo científico publicado en 2015

Global genetic architecture of an erythroid quantitative trait locus, HMIP-2

artículo científico publicado en 2014

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

artículo científico

HbA2levels in normal adults are influenced by two distinct genetic mechanisms

artículo científico publicado en 2012

Hydroxyurea therapy lowers circulating DNA levels in sickle cell anemia.

artículo científico publicado en 2008

Interaction between two quantitative trait loci affects fetal haemoglobin expression

artículo científico publicado en 2005

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

artículo científico publicado en 2007

Isolation of a cDNA Clone Encoding a KATP Channel-Like Protein Expressed in Insulin-Secreting Cells, Localization of the Human Gene to Chromosome Band 21q22.1, and Linkage Studies With NIDDM

article

Localization of the Gene Encoding a Neutral Amino Acid Transporter-like Protein to Human Chromosome Band 19q13.3 and Characterization of a Simple Sequence Repeat DNA Polymorphism

article

Localization of the glucagon receptor gene to human chromosome band 17q25

artículo científico publicado en 1994

Molecular-biological aspects of diabetes mellitus

artículo científico publicado el 1 de enero de 1991

Multiple loci are associated with white blood cell phenotypes

artículo científico publicado en 2011

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

artículo científico publicado en 1996

No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

artículo científico publicado en 2000

Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome

artículo científico publicado en 2004

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

artículo científico publicado en 2004

Response to hydroxyurea among Kuwaiti patients with sickle cell disease and elevated baseline HbF levels

artículo científico publicado en 2015

Restriction fragment length polymorphism of the insulin receptor gene, type 2 diabetes and insulin binding.

artículo científico publicado en 1991

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

artículo científico publicado en 2001

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

artículo científico publicado en 2011

The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans

artículo científico publicado en 2007

The effect of Duffy antigen receptor for chemokines on severity in sickle cell disease ⬇️

artículo científico publicado el 10 de junio de 2013

The effects of hydroxycarbamide on the plasma proteome of children with sickle cell anaemia

scientific article published on 29 May 2019

The genetics of type 2 diabetes

artículo científico publicado en 2001

The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease

artículo científico publicado en 2007

Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin

artículo científico publicado en 2006

Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

artículo científico publicado en 2003

cMYB is involved in the regulation of fetal hemoglobin production in adults.

artículo científico publicado en 2006

Lista de obras de Stephan Menzel

: a genetic model of fetal hemoglobin in sickle cell disease

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia.

A twins heritability study on alpha hemoglobin stabilizing protein (AHSP) expression variability

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

Association of sickle avascular necrosis with bone morphogenic protein 6

Associations between environmental factors and hospital admissions for sickle cell disease.

Circulating DNA: a potential marker of sickle cell crisis

Control of fetal hemoglobin: new insights emerging from genomics and clinical implications

Dinucleotide repeat polymorphism at D9S328E (EST hbc220).

Discovering the genetics underlying foetal haemoglobin production in adults.

Environmental determinants of severity in sickle cell disease

Evidence From a Large U.K. Family Collection That Genes Influencing Age of Onset of Type 2 Diabetes Map to Chromosome 12p and to the MODY3/NIDDM2 Locus on 12q24

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

Experimental generation of SNP haplotype signatures in patients with sickle cell anaemia

F cell numbers are associated with an X-linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease

Fetal Hemoglobin is Associated with Peripheral Oxygen Saturation in Sickle Cell Disease in Tanzania

Genetic and molecular analyses of complex metabolic disorders: genetic linkage.

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia.

Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania

Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients

Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

Global genetic architecture of an erythroid quantitative trait locus, HMIP-2

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

HbA2levels in normal adults are influenced by two distinct genetic mechanisms

Hydroxyurea therapy lowers circulating DNA levels in sickle cell anemia.

Interaction between two quantitative trait loci affects fetal haemoglobin expression

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

Isolation of a cDNA Clone Encoding a KATP Channel-Like Protein Expressed in Insulin-Secreting Cells, Localization of the Human Gene to Chromosome Band 21q22.1, and Linkage Studies With NIDDM

Localization of the Gene Encoding a Neutral Amino Acid Transporter-like Protein to Human Chromosome Band 19q13.3 and Characterization of a Simple Sequence Repeat DNA Polymorphism

Localization of the glucagon receptor gene to human chromosome band 17q25

Molecular-biological aspects of diabetes mellitus

Multiple loci are associated with white blood cell phenotypes

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

Response to hydroxyurea among Kuwaiti patients with sickle cell disease and elevated baseline HbF levels

Restriction fragment length polymorphism of the insulin receptor gene, type 2 diabetes and insulin binding.

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans

The effect of Duffy antigen receptor for chemokines on severity in sickle cell disease ⬇️

The effects of hydroxycarbamide on the plasma proteome of children with sickle cell anaemia

The genetics of type 2 diabetes

The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease

Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin

Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

cMYB is involved in the regulation of fetal hemoglobin production in adults.