(Q83195265)

English

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

scientific article published on 15 January 2009

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

A Minelli

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

E Maserati

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

L Sainati

5

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Europe PubMed Central

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19 January 2020

D Longoni

6

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Europe PubMed Central

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19 January 2020

F Lo Curto

7

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Europe PubMed Central

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19 January 2020

G Menna

8

1 reference

Europe PubMed Central

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19 January 2020

F Poli

9

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Europe PubMed Central

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19 January 2020

E De Paoli

10

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Europe PubMed Central

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19 January 2020

M Cipolli

11

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Europe PubMed Central

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19 January 2020

F Locatelli

12

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Europe PubMed Central

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19 January 2020

F Pasquali

13

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Europe PubMed Central

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19 January 2020

C Danesino

14

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Europe PubMed Central

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19 January 2020

publication date

15 January 2009

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19 January 2020

1 reference

Europe PubMed Central

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19 January 2020

23

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Europe PubMed Central

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19 January 2020

4

1 reference

Europe PubMed Central

PubMed publication ID

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19 January 2020

708-711

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19148133%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in SBDS are associated with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Hematologically important mutations: Shwachman–Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

The Shwachman-Diamond SBDS protein localizes to the nucleolus

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman syndrome by real-time quantitative PCR

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of novel mutations in patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Transient myelodysplastic syndrome associated with isochromosome 7q abnormality

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Isochromosome 7q in Down syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Isochromosomes in neoplasia

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman-Diamond syndrome: UK perspective

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Haematological abnormalities in Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1038%2FLEU.2008.369

7 January 2021

based on heuristic

inferred from DOI database lookup

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