[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

about

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

P2860

Q46709423-D2E26EBC-5A4C-4219-BBA2-720E4D0F6CA9

P2860

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Item

http://www.wikidata.org/entity/Q51984213

description

2007 nî lūn-bûn

@nan

2007年の論文

@ja

2007年学术文章

@wuu

2007年学术文章

@zh

2007年学术文章

@zh-cn

2007年学术文章

@zh-hans

2007年学术文章

@zh-my

2007年学术文章

@zh-sg

2007年學術文章

@yue

2007年學術文章

@zh-hant

name

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@en

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@nl

type

Item

label

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@en

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@nl

prefLabel

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@en

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@nl

P1476

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

@en

P2093

Alexander A L Jorge

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

Ana Claudia Keselman

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

Ivo J P Arnhold

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

Juan Jorge Heinrich

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

Lize V Ferreira

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

Luciana R Montenegro

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

Silvia A L Souza

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

Titania Pasqualini

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

P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Germline KRAS mutations cause Noonan syndrome

Prediction of response to growth hormone treatment in short children born small for gestational age: analysis of data from KIGS (Pharmacia International Growth Database).

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

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

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

Effect of growth hormone therapy on height in children with idiopathic short stature: a meta-analysis.

P304

450-456

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scholarly article

P356

10.1590/S0004-27302007000300014

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P407

Amanung Portuges

P433

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

P478

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

P50

Berenice Bilharinho Mendonca

P577

2007-04-01T00:00:00Z

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

P698

17546245

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

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

about

P2860

P2860

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698