Noonan Syndrome

Noonan Syndrome is a genetic disorder characterized by unusual facial features, heart defects and other phenotypes. Mutations in the RAS/MAPK signaling pathway account for the majority of cases. Discover the latest research on Noonan Syndrome here.

June 9, 2020
Case Report
Open Access

Combined cardiac anomalies in Noonan syndrome: A case report

International Journal of Surgery Case Reports
Natraj Setty H SC N Manjunath
August 10, 2020

Mutation and Phenotypic Spectrum of Patients With RASopathies

Indian Pediatrics
Meenakshi LallarRatna Dua Puri
July 30, 2020

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

American Journal of Human Genetics
Marialetizia MottaMarco Tartaglia
August 7, 2020
Open Access

Murine norovirus replicase augments RIG-I-like receptors-mediated antiviral interferon response

Antiviral Research
Peifa YuQiuwei Pan
August 11, 2020

Unroofing of Myocardial Bridging After Septal Myectomy in a Child With Noonan Syndrome

World Journal for Pediatric & Congenital Heart Surgery
Sameh M SaidGurumurthy M Hiremath
June 10, 2020
Open Access

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal of Human Genetics : EJHG
Luca FerrariPaola Riva
September 9, 2020

Identification of a protective epitope in Japanese encephalitis virus NS1 protein

Antiviral Research
Dengyuan ZhouYunfeng Song
July 11, 2020

CD14/16 monocyte profiling in juvenile myelomonocytic leukemia

Pediatric Blood & Cancer
Manisha GadgeelYaddanapudi Ravindranath
June 6, 2020

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

The Journal of Pediatrics
Meindina G HaarmanRolf M F Berger
September 15, 2020
Case Report
Open Access

Cubital tunnel syndrome in Noonan syndrome secondary to hypoplasia of the humeral trochlea

SAGE Open Medical Case Reports
Mana KoikeHirotaka Chikuda
June 5, 2020
Open Access

Noonan syndrome: genetic and clinical update and treatment options

Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)
Atilano CarcavillaJuan Pedro López-Siguero
September 3, 2020
Open Access

Effectiveness of growth hormone therapy in children with Noonan syndrome

Annals of Pediatric Endocrinology & Metabolism
Eun Mi SeokJin Soon Hwang
August 15, 2020
Open Access

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

The American Journal of Case Reports
Ieva MalnieceLinda Gailite
July 7, 2020

Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy

Circulation
Ulrich HansesLukas Cyganek

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