(Q37805602)

23 August 2017

title

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

1 reference

23 August 2017

language of work or name

English

0 references

publication date

29 October 2010

1 reference

Annals of the New York Academy of Sciences

23 August 2017

published in

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23 August 2017

volume

1214

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23 August 2017

page(s)

47-56

1 reference

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

23 August 2017

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Thalassemia: the continued challenge

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

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

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

21 January 2018

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Sickle cell disease in Orissa State, India

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Amelioration of Sardinian beta0 thalassemia by genetic modifiers

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

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

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

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

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21 January 2018

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Heritability of cardiovascular and personality traits in 6,148 Sardinians

21 January 2018

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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

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

21 January 2018

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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

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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

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21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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The future of genetic studies of complex human diseases

21 January 2018

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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

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

21 January 2018

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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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A haplotype map of the human genome

21 January 2018

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A second generation human haplotype map of over 3.1 million SNPs

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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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

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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 γ- to β-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