(Q35732118)

9 August 2017

title

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity (English)

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9 August 2017

Karen A Orfali

1

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9 August 2017

Yaw Ohene-Abuakwa

series ordinal

2

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9 August 2017

Sarah E Ball

series ordinal

3

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9 August 2017

language of work or name

English

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publication date

1 April 2004

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British Journal of Haematology

9 August 2017

published in

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9 August 2017

volume

125

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9 August 2017

issue

2

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9 August 2017

page(s)

243-252

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Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.

9 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Ribosomal protein S19 expression during erythroid differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Selection of new HSF1 and HSF2 DNA-binding sites reveals difference in trimer cooperativity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Sequence and structural requirements for high-affinity DNA binding by the WT1 gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Monocyte chemotactic factor in rheumatoid arthritis synovial tissue. Probably a cross-linked derivative of S19 ribosomal protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Fibroblast growth factor-2 interacts with free ribosomal protein S19

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Identical mutations and phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2004.04890.X

10.1111/J.1365-2141.2004.04890.X

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference