List of works - 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

article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 February 2009

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

scientific article

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

scientific article published in December 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

scientific article published on 19 July 2016

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

scientific article

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

scientific article published in May 2003

Association of sickle avascular necrosis with bone morphogenic protein 6

scientific article published on 18 December 2008

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

scientific article

Circulating DNA: a potential marker of sickle cell crisis.

scientific article

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

scientific article published on October 2009

Dinucleotide repeat polymorphism at D9S328E (EST hbc220).

scientific article published in February 1994

Discovering the genetics underlying foetal haemoglobin production in adults.

scientific article published on 02 March 2008

Environmental determinants of severity in sickle cell disease

scientific article

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

scientific article

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

scientific article (publication date: 24 September 2010)

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

scientific article published on 19 October 2020

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

scientific article published on 08 August 2017

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

scientific article

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

scientific article published on 10 February 2015

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

scientific article published on 29 May 2013

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

scientific article published on September 2015

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

scientific article published on 20 October 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 10 March 2014

HbA2levels in normal adults are influenced by two distinct genetic mechanisms

scientific article published on 09 October 2012

Hydroxyurea therapy lowers circulating DNA levels in sickle cell anemia.

scientific article published in September 2008

Interaction between two quantitative trait loci affects fetal haemoglobin expression

scientific article published in November 2005

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

scholarly article

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

scientific article (publication date: 15 March 1994)

Molecular-biological aspects of diabetes mellitus

scientific article published on January 1, 1991

Multiple loci are associated with white blood cell phenotypes

scientific article

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

scientific article published in December 1996

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

scientific article published on 01 February 2000

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

scientific article

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

scientific article published on 17 June 2004

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 21 August 2007

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

scientific article

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

List of works by 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 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.