PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
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Genetic Syndromes associated with Congenital Heart DiseaseThe molecular biology of WHO grade I astrocytomasA de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsEffects of Advancing Gestation and Non-Caucasian Race on Ductus Arteriosus Gene Expression.Endothelial ERK signaling controls lymphatic fate specificationExome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanismBleeding disorders in Noonan syndrome.Ras/MAPK syndromes and childhood hemato-oncological diseases.Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencingCo-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways.Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center.The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.Chronic pain in Noonan Syndrome: A previously unreported but common symptom.Noonan syndrome in diverse populations.Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosisClinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
P2860
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P2860
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@ast
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@en
type
label
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@ast
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@en
prefLabel
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@ast
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@en
P2093
P1476
PTPN11, SOS1, KRAS, and RAF1 g ...... patients with Noonan syndrome.
@en
P2093
Gu-Hwan Kim
Han-Wook Yoo
Jae-Min Kim
Jung Min Ko
P2888
P304
P356
10.1007/S10038-008-0343-6
P577
2008-11-20T00:00:00Z