• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

RASopathies are a group of developmental multisystemic disorders caused by germline
mutations in genes encoding signal transducers and regulatory proteins functionally linked …

Abstract The RAS-RAF-MEK-ERK signaling pathway is vital for different cellular
mechanisms including cell proliferation, differentiation and apoptosis. This importance is …

Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common
features in patients affected by RASopathies. The aim of this study was to assess genotype …

Human oncoproteins promote transformation of cells into tumours by dysregulating the
signalling pathways that are involved in cell growth, proliferation and death. Although …

The cardiovascular phenotype associated with RASopathies has expanded far beyond the
original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and …

Congenital heart disease (CHD) is the most common birth anomaly, affecting almost 1% of
infants. Neurodevelopmental delay is the most common extracardiac feature in people with …

RASopathies are a heterogeneous group of genetic syndromes caused by germline
mutations in a group of genes that encode components or regulators of the Ras/mitogen …

While the majority of individuals with Costello syndrome share characteristic findings
affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or …

The mechanism of vulnerability to pediatric low-grade gliomas (pLGGs)—the most common
brain tumor in children—during development remains largely unknown. Using mouse …