Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia (Q37369947)

20 August 2017

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia (English)

1 reference

20 August 2017

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Maria Carla Sollaino

1

1 reference

20 August 2017

Maria Elisabetta Paglietti

2

1 reference

20 August 2017

Lucia Perseu

3

1 reference

20 August 2017

Nicolina Giagu

4

1 reference

20 August 2017

Daniela Loi

5

1 reference

20 August 2017

Renzo Galanello

6

1 reference

20 August 2017

language of work or name

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1 October 2009

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20 August 2017

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20 August 2017

94

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20 August 2017

10

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20 August 2017

1445-1448

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Genetic modifiers of beta-thalassemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

A common protein binds to two silencers 5' to the human beta-globin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Detailed analysis of the site 3 region of the human beta-globin dominant control region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Sequence variations in the 5' hypersensitive site-2 of the locus control region of beta S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Globin chain synthesis in the alpha thalassemia syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Relationship between genotype and phenotype. Thalassemia intermedia.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754962

Heterozygous beta-thalassemia with thalassemia intermedia phenotype

2 September 2018

1 reference

12 December 2020

A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family

1 reference

12 December 2020

Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia

1 reference

12 December 2020

Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication

1 reference

12 December 2020

Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation

1 reference

12 December 2020

A novel mechanism for thalassaemia intermedia

1 reference

12 December 2020

Thalassaemia-like carriers not linked to the beta-globin gene cluster

1 reference

12 December 2020

Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

1 reference

12 December 2020

Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia

1 reference

12 December 2020

A family with segregating triplicated alpha globin loci and beta thalassemia

1 reference

12 December 2020

The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies

1 reference

12 December 2020

10.3324/HAEMATOL.2009.005728

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

1 reference