(Q28972372)

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α-thalassaemia

scientific article (publication date: 28 May 2010)

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scholarly article

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3 February 2020

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Alpha-thalassaemia (English)

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3 February 2020

alpha thalassemia

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6 March 2019

22 April 2019

2

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3 February 2020

author name string

Cornelis L Harteveld

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publication date

28 May 2010

4 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

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3 February 2020

Orphanet Journal of Rare Diseases

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6 March 2019

22 April 2019

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5

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

Europe PubMed Central

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13

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

Europe PubMed Central

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3 February 2020

copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

6 March 2019

Europe PubMed Central

22 April 2019

copyright status

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on focus list of Wikimedia project

0 references

Genetic variation and susceptibility to infection: the red cell and malaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

20 March 2017

Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

20 March 2017

Alpha thalassaemia-mental retardation, X linked

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

20 March 2017

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

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=2887799

20 March 2017

Rapid duplication and loss of genes coding for the alpha chains of hemoglobin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

20 March 2017

A review of the molecular genetics of the human alpha-globin gene cluster

1 reference

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20 March 2017

Protection against malaria morbidity: near-fixation of the alpha-thalassemia gene in a Nepalese population

1 reference

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20 March 2017

The alpha thalassaemias.

1 reference

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3 June 2018

Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Outcome of intensive care of homozygous alpha-thalassaemia without prior intra-uterine therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Pitfalls and caveats in BRCA sequencing

1 reference

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3 June 2018

Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Changing patterns of thalassemia worldwide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Neurodevelopmental outcome and haematological course of a long-time survivor with homozygous alpha-thalassaemia: case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Prenatal screening for cystic fibrosis: past, present and future

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

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=2887799

3 June 2018

Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hemoglobin H disease: not necessarily a benign disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hb H hydrops foetalis syndrome: a case report and review of literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Successful mismatched sibling cord blood transplant in Hb Bart's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Changing outcome of homozygous alpha-thalassemia: cautious optimism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Alpha-thalassaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Homozygous alpha-thalassaemia and hypospadias--common aetiology or incidental association? Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of alpha-thalassaemic traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Human alpha-thalassemia syndromes: detection of molecular defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hematologic disorders and nonimmune hydrops fetalis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Detection of alpha thalassaemia in Negro infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hemoglobin H disease from Algeria: genetic and molecular characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

A gradient of sequence divergence in the human adult alpha-globin duplication units

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Independent recombination events between the duplicated human α globin genes; implications for their concerted evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Haemoglobin synthesis in thalassaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Haemoglobin Constant Spring--a chain termination mutant?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

An alpha-globin gene initiation codon mutation in a black family with HbH disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Prevalence and molecular heterogeneity of alfa+ thalassemia in two tribal populations from Andhra Pradesh, India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

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=2887799

3 June 2018

Hydrops fetalis due to an unusual form of Hb H disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Melanesians and Polynesians share a unique alpha-thalassemia mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Alpha thalassaemia in British people

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Fetoscopy in the assessment of unexplained fetal hydrops.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Nonimmune hydrops fetalis associated with genetic abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

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=2887799

3 June 2018

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=2887799

3 June 2018

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

HbH disease in Sardinia: molecular, hematological and clinical aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Detection and molecular analysis of alpha and beta thalassaemia genes--recent developments in screening protocols

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

The molecular basis of alpha-thalassemia in Thailand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Thalassemia in SouthEast Asia: problems and strategy for prevention and control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Hemoglobin Koya Dora: high frequency of a chain termination mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

3 June 2018

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Clinical features and molecular analysis in Thai patients with HbH disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Homozygous alpha-thalassemia treated with intrauterine transfusions and unrelated donor hematopoietic cell transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Usefulness of brilliant cresyl blue staining as an auxiliary method of screening for alpha-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

A Fast-moving Hæmoglobin in Hydrops Fœtalis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

The unusual pathobiology of hemoglobin constant spring red blood cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Phenotype-genotype correlation in haemoglobin H disease in childhood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Alpha thalassaemia hydrops fetalis in the UK: the importance of screening pregnant women of Chinese, other South East Asian and Mediterranean extraction for alpha thalassaemia trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

alpha-Thalassaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887799

26 November 2018

Hematologic changes in alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large deletion in the human -globin cluster caused by a replication error is associated with an unexpectedly mild phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Abnormal Haemoglobins in Homozygous α-Thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Inclusions in Heterozygous Alpha-Thalassemia According to Their Alpha-Globin Genotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of nonimmune hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and clinical features of hemoglobin H disease in Chinese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha-Thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype-genotype correlation in Sicilian patients with Hb H

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

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/20507641

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/20507641

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/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel α-globin gene arrangement in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of alpha thalassaemia phenotypes by messenger RNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A New Genetic Basis for Hemoglobin-H Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new triplicated alpha-globin gene arrangement in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for Hb Bart's in Italian subjects of heterogeneous regional origin born in Lombardy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrops fetalis secondary to Bart hemoglobinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Survival of a hydropic infant with homozygous α-thalassemia-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal long-term survival with alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defects in 2 examples of severe Hb H disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The polyadenylation site mutation in the alpha-globin gene cluster

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation of clinical phenotype to genotype in haemoglobin H disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for alpha-thalassemia in southern Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

8 The population genetics of the haemoglobinopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified procedure for sequencing amplified DNA containing the alpha 2- or alpha 1-globin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha))

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

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/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three new alpha-thalassemia point mutations ascertained through newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Acute anaemia in a Vietnamese patient with alpha-thalassaemia and a parvovirus infection]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the alpha2-globin gene polyadenylation signal mutation AATAAA-->AATA- -

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The types of hemoglobins and globin chains in hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of severe alpha-thalassemias causing hydrops fetalis in Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the polyadenylation signal of the alpha 2 globin gene (AATAAA-->AATA--) as a cause of alpha thalassaemia in Asian indians

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defects in Hb H hydrops fetalis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is homozygous alpha-thalassaemia a lethal condition in the 1990s?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Qualitative and quantitative magnetic resonance imaging in haemoglobin H disease: screening for iron overload

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Etiology and outcome of non-immune hydrops fetalis in southern Thailand

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonimmune hydrops fetalis diagnosed during the second half of pregnancy in Southern China

1 reference

https://pubmed.ncbi.nlm.nih.gov/20507641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-5-13

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20507641%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Dimensions Publication ID

0 references

release_djvpndcwr5elbpy3ywmh4mqc4m

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20507641%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pmc&retmode=json&id=2887799

20 March 2017

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20507641%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

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