(Q28253597)

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2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem

scientific article

The Thalassemias: The Role of Molecular Genetics in an Evolving Global Health Problem**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 7, 2003.

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem (English)

1 reference

Europe PubMed Central

4 July 2017

The Thalassemias: The Role of Molecular Genetics in an Evolving Global Health Problem**Previously presented at the annual meeting of The American Society of Human Genetics, in Los Angeles, on November 7, 2003 (English)

1 reference

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

0 references

author name string

David Weatherall

1

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

language of work or name

0 references

publication date

1 March 2004

1 reference

Europe PubMed Central

4 July 2017

March 2004

1 reference

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

American Journal of Human Genetics

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

74

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

3

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

385-392

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

Sickle cell anemia, a molecular disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

beta 0 thalassemia, a nonsense mutation in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

20 March 2017

Genetic basis of the thalassaemia diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Syndromes of disordered chromatin remodeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Genetic variability in response to infection: malaria and after

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

alpha+-Thalassemia protects children against disease caused by other infections as well as malaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

1993 William Allan award address

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Alpha-thalassemia in Northern Thailand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Thalassemia: The consequences of unbalanced hemoglobin synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Isolation and translation of hemoglobin messenger RNA from thalassemia, sickle cell anemia, and normal human reticulocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Acquired Haemoglobin H Disease in Leukaemia: Pathophysiology and Molecular Basis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

The α-chain-termination mutants and their relation to the α-thalassaemias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

29 September 2017

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Global epidemiology of hemoglobin disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Treatment of beta-thalassemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

2 June 2018

Excess alpha chain synthesis relative to beta chain synthesis in thalassaemia major and minor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

27 November 2018

ABNORMAL HUMAN HEMOGLOBINS. X. A STUDY OF HEMOGLOBIN LEPORE BOSTON.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

27 November 2018

Disordered globin synthesis in thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182250

27 November 2018

Treatment of thalassaemia major with phenylbutyrate and hydroxyurea

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inclusions of hemoglobin erythroblasts and erythrocytes of thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of beta-globin mRNA in the beta0 thalassemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Synthesis in β-Thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Synthesis in α-Thalassaemia (Haemoglobin H Disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Improved Method for the Characterization of Human Haemoglobin Mutants: Identification of α2β295GLU, Haemoglobin N (Baltimore)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Globin Synthesis in Thalassaemia: An in vitro Study

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival in medically treated patients with homozygous beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marrow transplantation for thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15053011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

2 references

Europe PubMed Central

4 July 2017

DOI.org query endpoint

https://doi.org/10.1086%2F381402

26 March 2017

release_vd4lztk7pbh6bkwxebxygwqjeq

1 reference

https://api.fatcat.wiki/v0/release/vd4lztk7pbh6bkwxebxygwqjeq

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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