Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

(2020) Léa Linglart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

(2019) Gregor Andelfinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01

(2019) Sébastien Perreault et al.   BMC CANCER

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

(2016) Karim Kouz et al.   GENETICS IN MEDICINE

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1)

(2016) Zhenhao Fang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

(2015) M. Koenighofer et al.   CLINICAL GENETICS

Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of neurofibromatosis type 1

(2015) Edwin Jousma et al.   PEDIATRIC BLOOD & CANCER

Cardiovascular disease in Noonan syndrome

(2014) T. W. Prendiville et al.   ARCHIVES OF DISEASE IN CHILDHOOD

K-RasV14Irecapitulates Noonan syndrome in mice

(2014) Isabel Hernández-Porras et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry

(2012) James D. Wilkinson et al.   AMERICAN HEART JOURNAL

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation

(2011) Xue Wu et al.   JOURNAL OF CLINICAL INVESTIGATION