Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. (Q37186060)

18 August 2017

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. (English)

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18 August 2017

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Adrianna Vlachos

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18 August 2017

Niklas Dahl

2

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PMCID

3778360

18 August 2017

Irma Dianzani

series ordinal

3

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PMCID

3778360

18 August 2017

Jeffrey M Lipton

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4

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18 August 2017

6 March 2013

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European Journal of Human Genetics

18 August 2017

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18 August 2017

21

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18 August 2017

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.34

18 August 2017

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cites work

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Establishing the role of pre-implantation genetic diagnosis with human leucocyte antigen typing: what place do "saviour siblings" have in paediatric transplantation?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

RPS19 mutations in patients with Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

Preimplantation genetics: Improving access to stem cell therapy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778360

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.34

21 January 2018

1 reference

12 December 2020

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

1 reference

PubMed

12 December 2020

Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

1 reference

PubMed

12 December 2020

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.34

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

PMCID

3778360