PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome (Q33382063)

26 July 2017

title

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome (English)

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genotype-phenotype correlation

26 July 2017

main subject

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Jung Min Ko

1

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26 July 2017

Jae-Min Kim

series ordinal

2

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26 July 2017

Gu-Hwan Kim

series ordinal

3

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26 July 2017

Han-Wook Yoo

series ordinal

4

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26 July 2017

publication date

20 November 2008

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Journal of Human Genetics

26 July 2017

published in

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26 July 2017

volume

53

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26 July 2017

issue

11-12

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26 July 2017

page(s)

999-1006

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Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database

26 July 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0343-6

A clinical study of Noonan syndrome

21 January 2018

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12 December 2020

Noonan syndrome: the changing phenotype

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12 December 2020

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

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12 December 2020

Noonan syndrome: relationships between genotype, growth, and growth factors

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12 December 2020

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

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12 December 2020

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

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12 December 2020

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

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12 December 2020

Cardiovascular disease and risk factors: the role of growth hormone.

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12 December 2020

Germline KRAS mutations cause Noonan syndrome

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12 December 2020

Genotype-phenotype correlations in Noonan syndrome

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12 December 2020

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12 December 2020

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome

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12 December 2020

SIFT: Predicting amino acid changes that affect protein function

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12 December 2020

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

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12 December 2020

Role of raf proteins in cardiac hypertrophy and cardiomyocyte survival

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12 December 2020

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

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12 December 2020

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

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12 December 2020

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

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12 December 2020

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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12 December 2020

Genetics and variation in phenotype in Noonan syndrome

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12 December 2020

The MEK1-ERK1/2 signaling pathway promotes compensated cardiac hypertrophy in transgenic mice

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12 December 2020

Human non-synonymous SNPs: server and survey

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12 December 2020

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

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12 December 2020

Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless

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12 December 2020

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

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12 December 2020

Clinical and molecular studies in a large Dutch family with Noonan syndrome

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12 December 2020

Short stature in Noonan syndrome: response to growth hormone therapy.

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12 December 2020

Noonan syndrome. An update and review for the primary pediatrician

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12 December 2020

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

1 reference

12 December 2020

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

12 December 2020

Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients

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12 December 2020

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12 December 2020

The role of somatropin therapy in children with Noonan syndrome

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12 December 2020

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

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12 December 2020

10.1007/S10038-008-0343-6

Identifiers

DOI

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release_hhis4ys33fde7fy5usjirhmkse

26 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/hhis4ys33fde7fy5usjirhmkse

24 November 2022

mapped directly with Wikidata item

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