(Q82108621)

English

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

scientific article published on 01 April 2006

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scholarly article

1 reference

Europe PubMed Central

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14 January 2020

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

1 reference

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14 January 2020

11

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14 January 2020

author name string

Emanuela Maserati

1

1 reference

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14 January 2020

Antonella Minelli

2

1 reference

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14 January 2020

Barbara Pressato

3

1 reference

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14 January 2020

Roberto Valli

4

1 reference

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14 January 2020

Barbara Crescenzi

5

1 reference

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14 January 2020

Maurizio Stefanelli

6

1 reference

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14 January 2020

Giuseppe Menna

7

1 reference

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14 January 2020

Laura Sainati

8

1 reference

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14 January 2020

Furio Poli

9

1 reference

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14 January 2020

Claudio Panarello

10

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14 January 2020

Francesco Lo Curto

12

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14 January 2020

Cristina Mecucci

13

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14 January 2020

Cesare Danesino

14

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14 January 2020

Francesco Pasquali

15

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14 January 2020

publication date

1 April 2006

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14 January 2020

Genes, Chromosomes and Cancer

1 reference

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14 January 2020

45

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14 January 2020

375-382

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14 January 2020

4

1 reference

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14 January 2020

Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

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/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

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/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman-diamond syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased spontaneous chromosomal breakage in Shwachman syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman syndrome and chromosome breakage

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Human genotoxicity: pesticide applicators and phosphine

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

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/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial partial monosomy 7 and myelodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Bone marrow transplantation in Shwachman-Diamond syndrome: report of two cases and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

The influence of age, sex and smoking habits on the background level of fish-detected translocations

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Shwachman-Diamond syndrome: report from an international conference

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Public health burden of cancer in ataxia-telangiectasia heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

A case of Shwachman syndrome with increased spontaneous chromosome breakage

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1002%2FGCC.20301

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/GCC.20301

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16382447%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16382447%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

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