(Q59242147)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

review article

1 reference

title

alpha-Thalassaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

Higgs DR

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

language of work or name

English

0 references

publication date

1 March 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

Best Practice and Research: Clinical Haematology

30 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

page(s)

117-150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

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

30 October 2019

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7 January 2021

The mosaic genome of warm-blooded vertebrates

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7 January 2021

Normal long-term survival with alpha-thalassemia

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7 January 2021

Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions

1 reference

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7 January 2021

Localisation of human alpha globin to 16p13.3----pter

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7 January 2021

Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion

1 reference

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7 January 2021

Can the product of the theta gene be a real globin?

1 reference

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7 January 2021

Haemoglobin Constant Spring--a chain termination mutant?

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7 January 2021

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

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7 January 2021

Alpha alpha alpha alpha anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination

1 reference

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7 January 2021

CASE OF INTRAUTERINE DEATH DUE TO ALPHA-THALASSAEMIA

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7 January 2021

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Two different theta (theta) globin gene deletions observed among black newborn babies

1 reference

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7 January 2021

A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease

1 reference

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7 January 2021

Abnormal RNA splicing causes one form of alpha thalassemia

1 reference

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7 January 2021

Long range genome structure around the human alpha-globin complex analysed by PFGE.

1 reference

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7 January 2021

Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene

1 reference

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7 January 2021

Function of a new globin gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

A large deletion encompassing the entire alpha-like globin gene cluster in a family of northern European extraction

1 reference

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7 January 2021

A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Phenotype-genotype correlation in haemoglobin H disease in childhood.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia

1 reference

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7 January 2021

Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease

1 reference

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7 January 2021

Characterization of a new alpha-thalassemia-1 deletion in a Spanish family

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Two different quadruplicated alpha globin gene arrangements

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Hydrops fetalis due to homozygosity for alpha-thalassemia-1, -(alpha)-20.5 kb: the first observation in a Turkish family

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A previously undetected pseudogene in the human alpha globin gene cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A novel α-globin gene arrangement in man

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Highly variable regions of DNA flank the human alpha globin genes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Clinical features and molecular analysis of acquired hemoglobin H disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

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7 January 2021

Alpha thalassaemia in British people

1 reference

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7 January 2021

A major positive regulatory region located far upstream of the human alpha-globin gene locus

1 reference

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7 January 2021

Recombination within the human embryonic xi-globin locus: a common xi-xi chromosome produced by gene conversion of the psi xi gene

1 reference

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7 January 2021

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Structure and expression of the human theta 1 globin gene

1 reference

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7 January 2021

Nuclear scaffold attachment sites in the human globin gene complexes.

1 reference

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7 January 2021

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

1 reference

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7 January 2021

Characterization of the major regulatory element upstream of the human alpha-globin gene cluster

1 reference

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7 January 2021

Identification of a nondeletion defect in alpha-thalassemia

1 reference

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7 January 2021

Haemoglobin Bart's hydrops syndrome in Greece

1 reference

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7 January 2021

Correlation of clinical phenotype to genotype in haemoglobin H disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

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7 January 2021

Acute lymphoblastic leukemia with brilliant cresyl blue erythrocytic inclusions--acquired hemoglobin H?

1 reference

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7 January 2021

The levels of zeta, gamma, and delta chains in patients with Hb H disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

The gene for theta-globin is transcribed in human fetal erythroid tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Globin gene expression in erythroid human fetal liver cells

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

The molecular basis of alpha thalassaemia in a South African population

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Alpha-thalassemia due to the deletion of nucleotides -2 and -3 preceding the AUG initiation codon affects translation efficiency both in vitro and in vivo

1 reference

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7 January 2021

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

1 reference

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7 January 2021

The duplicated human α-globin genes: Their relative expression as measured by RNA analysis

1 reference

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7 January 2021

Haemoglobin switching in human embryos: asynchrony of zeta----alpha and epsilon----gamma-globin switches in primitive and definite erythropoietic lineage

1 reference

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7 January 2021

Haemoglobin Bart's hydrops foetalis in Thailand

1 reference

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7 January 2021

Homozygous haemoglobin constant spring: A need for revision of concept

1 reference

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7 January 2021

Transcriptional interference and termination between duplicated alpha-globin gene constructs suggests a novel mechanism for gene regulation

1 reference

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7 January 2021

The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication

1 reference

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7 January 2021

The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene

1 reference

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7 January 2021

Clustering of hypervariable minisatellites in the proterminal regions of human autosomes

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Translational profiles of alpha 1-, alpha 2-, and beta-globin messenger ribonucleic acids in human reticulocytes

1 reference

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7 January 2021

Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassaemia

1 reference

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7 January 2021

The molecular basis for the haemoglobin Bart's hydrops fetalis syndrome in Cyprus

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A new triplicated alpha-globin gene arrangement in man

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Molecular defects in 2 examples of severe Hb H disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Characterization of a new alpha zero thalassaemia defect in the South African population

1 reference

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7 January 2021

Unexpected relationships between four large deletions in the human beta-globin gene cluster

1 reference

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7 January 2021

A novel deletion of the entire alpha-globin gene cluster in a British individual

1 reference

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7 January 2021

Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Immunologic Diagnosis of α-Thalassemia Traits

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Abnormal haemoglobins in the neonatal period and their relationship to thalassaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

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://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

Alpha-globin gene organisation and prenatal diagnosis of alpha-thalassaemia in Chinese

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980068-X

7 January 2021

A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease

1 reference

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7 January 2021

10.1016/S0950-3536(05)80068-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8353312%20AND%20SRC:MED&resulttype=core&format=json