Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

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Germline Genetic Predisposition to Hematologic Malignancy.VAV1-Cre mediated hematopoietic deletion of CBL and CBL-B leads to JMML-like aggressive early-neonatal myeloproliferative disease.

P2860

Q39180483-323C7786-9128-4367-833B-285F583F09A1 Q41906135-6BDE15F0-A7D9-497A-9000-D7DD98CB6575

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Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

Item

http://www.wikidata.org/entity/Q48230865

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@en

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@nl

type

Item

label

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@en

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@nl

prefLabel

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@en

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@nl

P1476

Adults with germline CBL mutat ...... monocytic leukemia at infancy.

@en

P2093

Chiho Okuma

http://www.w3.org/2001/XMLSchema#string

Hirokazu Tsukahara

http://www.w3.org/2001/XMLSchema#string

Hisashi Ishida

http://www.w3.org/2001/XMLSchema#string

Junko Takita

http://www.w3.org/2001/XMLSchema#string

Kiichiro Kanamitsu

http://www.w3.org/2001/XMLSchema#string

Megumi Oda

http://www.w3.org/2001/XMLSchema#string

Michiko Muraoka

http://www.w3.org/2001/XMLSchema#string

Seishi Ogawa

http://www.w3.org/2001/XMLSchema#string

Yui Kanazawa

http://www.w3.org/2001/XMLSchema#string

Yusuke Sato

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P2860

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

Cytogenetic and molecular genetic aspects of childhood myeloproliferative/myelodysplastic disorders.

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies.

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

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jhg.2016.8

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523-526

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scholarly article

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10.1038/JHG.2016.8

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http://www.w3.org/2001/XMLSchema#string

P478

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2016-02-25T00:00:00Z

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P6179

1048034923

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P698

26911351

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Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

about

P2860

P2860

Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698