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

Imaging of central lymphatic abnormalities in Noonan syndrome

(2019) David M. Biko et al.   PEDIATRIC RADIOLOGY

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong

(2019) Kris P. T. Yu 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

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients

(2019) Xin Li et al.   CLINICAL GENETICS

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

(2019) Dong Li et al.   NATURE MEDICINE

Catalytic dysregulation of SHP2 leading to Noonan syndromes impacts on platelet signaling and functions

(2019) Marie Bellio et al.   BLOOD

Results of balloon pulmonary valvoplasty in children with Noonan’s syndrome

(2018) Jonathon Holzmann et al.   CARDIOLOGY IN THE YOUNG

The Rasopathy family: Consequences of germline activation of the RAS/MAPK pathway

(2018) Mylène Tajan et al.   ENDOCRINE REVIEWS

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome

(2018) Anne Morice et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

(2018) Mark D. Levin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis

(2018) Kailyn Anderson et al.   Congenital Heart Disease

Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome

(2017) J. Perez Botero et al.   HAEMOPHILIA

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

(2017) Giulio Calcagni et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Post-Operative Chylothorax in Patients With Congenital Heart Disease

(2017) Jill J. Savla et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome

(2016) Rizwan Ahmad Tahir et al.   Journal of NeuroInterventional Surgery

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

(2015) David M. Mauro et al.   PEDIATRIC RADIOLOGY

Cardiovascular disease in Noonan syndrome

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

Germline Mutation ofCBLIs Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Like Disorder

(2014) Nobuyuki Hyakuna et al.   PEDIATRIC BLOOD & CANCER

Hemostatic Abnormalities in Noonan Syndrome

(2014) A. Artoni et al.   PEDIATRICS

Frequency of Aortic Dilation in Noonan Syndrome

(2013) James W. Cornwall et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

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

Noonan Syndrome With Complete Atrioventricular Canal Defect With Pulmonary Stenosis

(2013) Akshyaya K. Pradhan et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Cardiac Findings in Noonan Syndrome on Long-term Follow-up

(2013) John L. Colquitt et al.   Congenital Heart Disease

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

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

(2012) Patroula Smpokou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atrioventricular canal defect in patients with RASopathies

(2012) Maria Cristina Digilio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

(2011) Francesca Lepri et al.   HUMAN MUTATION

Bleeding disorders in Noonan syndrome

(2011) Benjamin J. Briggs et al.   PEDIATRIC BLOOD & CANCER

The real cost of sequencing: higher than you think!

(2011) Andrea Sboner et al.   GENOME BIOLOGY

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

(2009) T. Araki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA