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.

April 16, 2021

Towards better understanding of giant cell granulomas of the oral cavity.

Journal of Clinical Pathology
Atif Ahmed, Aparna Naidu
April 14, 2021

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Daichi InoueOmar Abdel-Wahab
April 14, 2021
Open Access

Targeting Son of Sevenless 1: The pacemaker of KRAS.

Current Opinion in Chemical Biology
Dirk KesslerDarryl B McConnell
April 4, 2021

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Alessandra D'AmicoDaniela Melis
April 2, 2021

Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management.

American Journal of Blood Research
Aditya Kumar GuptaRachna Seth
April 1, 2021
Case Report
Open Access

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Case Reports in Neurology
Yoshihito AndoYoko Aoki
March 30, 2021
Case Report

Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.

American Journal of Medical Genetics. Part a
Joel A Morales-RosadoRadhika Dhamija
March 30, 2021
Open Access

A multifunctional cross-validation high-throughput screening protocol enabling the discovery of new SHP2 inhibitors.

Acta Pharmaceutica Sinica. B
Yihui SongHong-Min Liu
March 30, 2021
Case Report

Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage.

Molecular Syndromology
Eduardo Orrego-GonzálezAlberto Velez-Van-Meerbeke
March 28, 2021
Open Access

Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.

Molecular Genetics & Genomic Medicine
Antonio R PorrasMarius George Linguraru
March 25, 2021

Liver Transplantation From a Donor With Noonan Syndrome: Caveat Emptor.

Vincenzo BuscemiLuciano De Carlis
March 22, 2021
Case Report

First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.

American Journal of Medical Genetics. Part a
Mattia GentileRomina Ficarella
March 11, 2021
Open Access

Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines.

Cardiovascular Drugs and Therapy
Jae-Sung YiAnton M Bennett
March 10, 2021

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Huda B Al-KouatlySeth I Berger
March 9, 2021
Open Access

Embryonic Expression of NrasG 12 D Leads to Embryonic Lethality and Cardiac Defects.

Frontiers in Cell and Developmental Biology
Xiaona YouYoungsook Lee
March 9, 2021

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

American Journal of Medical Genetics. Part a
Dena R MatalonElaine H Zackai
March 7, 2021
Open Access

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.

Brain Sciences
Paolo AlfieriStefano Vicari
March 7, 2021
Open Access

Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis.

Actas dermo-sifiliográficas
B Lozano-MasdemontM T Darnaude-Ortiz
March 7, 2021

Enlarged spinal nerve roots in RASopathies: Report of two cases.

European Journal of Medical Genetics
Leoni ChiaraZampino Giuseppe
March 6, 2021

Plastic Bronchitis and Noonan Syndrome.

Archivos de bronconeumología
Adrián López-AlbaJosé Ignacio de Granda-Orive

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