Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women (Q50557804)

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scientific article published on July 20, 2010

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English	Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women	scientific article published on July 20, 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women (English)

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

https://api.crossref.org/works/10.1016/J.ANNDIAGPATH.2010.05.003

4 August 2024

gastrointestinal stromal tumor

1 reference

based on heuristic

inferred from title

missense mutation

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20952281

4 August 2024

author name string

Naoto Kuroda

1

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Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Nobuyuki Tanida

2

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Seiichi Hirota

3

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Ondrej Daum

4

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Ondrej Hes

5

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Michal Michal

6

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Gang-Hong Lee

7

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Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20952281

4 August 2024

publication date

20 July 2010

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Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

full work available at URL

https://api.elsevier.com/content/article/PII:S1092913410000766?httpAccept=text/xml

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

https://api.crossref.org/works/10.1016/J.ANNDIAGPATH.2010.05.003

4 August 2024

https://api.elsevier.com/content/article/PII:S1092913410000766?httpAccept=text/plain

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

https://api.crossref.org/works/10.1016/J.ANNDIAGPATH.2010.05.003

4 August 2024

Annals of Diagnostic Pathology

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

15

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Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

5

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Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

358-361

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

Familial gastrointestinal stromal tumours with germline mutation of the KIT gene

1

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

https://api.crossref.org/works/10.1016/J.ANNDIAGPATH.2010.05.003

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Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene

2

1 reference

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Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors

3

1 reference

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Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene

4

1 reference

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Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

5

1 reference

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Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene

6

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

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4 August 2024

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia

7

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

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4 August 2024

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor

8

1 reference

10.1016/J.ANNDIAGPATH.2010.05.003

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Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

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Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis

10

1 reference

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Multiple gastrointestinal stromal tumors with a germline c-kit mutation.

11

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Familial Gastrointestinal Stromal Tumor Syndrome: Phenotypic and Molecular Features in a Kindred

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Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features

13

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Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling

14

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A new familial GIST identified

15

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Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

16

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Multiple gastrointestinal stromal tumors: Clinicopathologic and genetic analysis of 12 patients

17

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Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y.

19

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Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation

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Gastrointestinal stromal tumours: an update

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Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours

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High incidence of microscopic gastrointestinal stromal tumors in the stomach.

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Multicentric sporadic gastrointestinal stromal tumors (GISTs) of the stomach with distinct clonal origin: differential diagnosis to familial and syndromal GIST variants and peritoneal metastasis

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Multiple sporadic gastrointestinal stromal tumors (GISTs) of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect

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Identifiers

10.1016/J.ANNDIAGPATH.2010.05.003

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/20952281

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