about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairMAP'ing CNS development and cognition: an ERKsome processCopy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasiaMicroRNAs in congenital heart diseaseMicroRNAs: a new piece in the paediatric cardiovascular disease puzzleSmall G proteins in the cardiovascular system: physiological and pathological aspectsDissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling.Cell type-dependent Erk-Akt pathway crosstalk regulates the proliferation of fetal neural progenitor cellsRas oncogenes: split personalitiesRas and Rap signaling in synaptic plasticity and mental disorders.Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumA recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Noonan syndrome: clinical aspects and molecular pathogenesis.The molecular genetics of congenital heart disease: a review of recent developments.Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafishSpectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsCardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Madarosis: a marker of many maladiesClinical and Molecular Findings of Tunisian Patients with RASopathies.Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defectsDisorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsCardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemiaNoonan syndrome and clinically related disorders.Fate and plasticity of the epidermis in response to congenital activation of BRAF.BRAF gene: From human cancers to developmental syndromes.Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.Activated Kras alters epidermal homeostasis of mouse skin, resulting in redundant skin and defective hair cycling.Cardiomyopathies in Noonan syndrome and the other RASopathies.New Genetic Insights into Congenital Heart Disease.Cardiofaciocutaneous syndrome: a rare entityDisruption of the ERK/MAPK pathway in neural crest cells as a potential cause of Pierre Robin sequence.RAS and downstream RAF-MEK and PI3K-AKT signaling in neuronal development, function and dysfunctionEvolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.Genetic aspects of birth defects: new understandings of old problems.Mitogen-activated protein kinases in heart development and diseasesRole of ERK1/2 signaling in congenital valve malformations in Noonan syndrome
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The cardiofaciocutaneous syndrome
@ast
The cardiofaciocutaneous syndrome
@en
The cardiofaciocutaneous syndrome
@nl
type
label
The cardiofaciocutaneous syndrome
@ast
The cardiofaciocutaneous syndrome
@en
The cardiofaciocutaneous syndrome
@nl
prefLabel
The cardiofaciocutaneous syndrome
@ast
The cardiofaciocutaneous syndrome
@en
The cardiofaciocutaneous syndrome
@nl
P2093
P2860
P3181
P356
P1476
The cardiofaciocutaneous syndrome
@en
P2093
J Allanson
M I Kavamura
S K Jadico
P2860
P304
P3181
P356
10.1136/JMG.2006.042796
P407
P577
2006-11-01T00:00:00Z