Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations (Q33632209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

main subject

Italy

0 references

Diamond-Blackfan anemia

1 reference

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Ugo Ramenghi

1 reference

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8 February 2020

Paola Quarello

1 reference

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8 February 2020

Emanuela Garelli

1 reference

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8 February 2020

Adriana Carando

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Roberto Calabrese

1 reference

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8 February 2020

Carlo Dufour

1 reference

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8 February 2020

Daniela Longoni

1 reference

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8 February 2020

Aldo Misuraca

1 reference

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8 February 2020

Anna Aspesi

1 reference

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8 February 2020

Laura Biondini

1 reference

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8 February 2020

Fabrizio Loreni

1 reference

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8 February 2020

Irma Dianzani

1 reference

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8 February 2020

publication date

22 September 2009

1 reference

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8 February 2020

1 reference

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8 February 2020

volume

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8 February 2020

issue

1 reference

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8 February 2020

page(s)

206-213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

8 February 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2817022/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

RPS19 mutations in patients with Diamond-Blackfan anemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817022

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

14 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19773262

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19773262

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2009.011783

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

19773262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19773262%20AND%20SRC:MED&resulttype=core&format=json