Modifier genes in Mendelian disorders: the example of hemoglobin disorders (Q37805602)

23 August 2017

Modifier genes in Mendelian disorders: the example of hemoglobin disorders (English)

1 reference

23 August 2017

4

Joel N Hirschhorn

1 reference

23 August 2017

Vijay G Sankaran

1

1 reference

23 August 2017

Guillaume Lettre

series ordinal

2

1 reference

23 August 2017

Stuart H Orkin

series ordinal

3

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23 August 2017

language of work or name

English

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publication date

29 October 2010

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Annals of the New York Academy of Sciences

23 August 2017

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23 August 2017

1214

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23 August 2017

47-56

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

23 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

The inherited diseases of hemoglobin are an emerging global health burden

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Pathogenesis and treatment of sickle cell disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Hb H disease: clinical course and disease modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

21 January 2018

The beta-thalassemias

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Haemoglobin E beta thalassaemia in Sri Lanka.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Thalassemia: the continued challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Acute sickle cell syndromes in Nigerian adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Discontinuing penicillin prophylaxis in children with sickle cell anemia. Prophylactic Penicillin Study II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Bacteraemia in Kenyan children with sickle-cell anaemia: a retrospective cohort and case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Sickle-cell disease: an ounce of prevention, a pound of cure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Mortality in sickle cell disease. Life expectancy and risk factors for early death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

The use of transcranial ultrasonography to predict stroke in sickle cell disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Sickle cell disease in Orissa State, India

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Iron chelation therapy in the management of thalassemia: the Asian perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

A scoring system for the classification of beta-thalassemia/Hb E disease severity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Concurrent sickle cell anemia and alpha-thalassemia. Effect on pathological properties of sickle erythrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Mild thalassemia: the result of interactions of alpha and beta thalassemia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Genetic complexity in sickle cell disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Heritability of cardiovascular and personality traits in 6,148 Sardinians

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Searching for genetic determinants in the new millennium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

The future of genetic studies of complex human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

A genome-wide association study of global gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

A haplotype map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

A second generation human haplotype map of over 3.1 million SNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Genome-wide association studies for common diseases and complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Developmental and species-divergent globin switching are driven by BCL11A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

Abnormal RNA processing due to the exon mutation of βE-globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05821.X

10.1111/J.1749-6632.2010.05821.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference