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Noonan Syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Noonan Syndrome" returned 15 free, full-text review articles. First few results:
Cardiovascular disease in Noonan syndrome.
Last Updated: Jun 17, 2019

To provide information on the scope of cardiac disease in Noonan syndrome.

Noonan syndrome: an update on growth and development.
Last Updated: Feb 15, 2019

To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed.

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?
Last Updated: Dec 02, 2018

To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment.

Full PubMed Review articles matches at NCBI:
15 Free Review Articles 62 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Noonan Syndrome" returned 0 free, full-text editorial articles. First 0 results:
Noonan syndrome revisited.
Last Updated: Jun 30, 2019

Full PubMed Editorials matches at NCBI:
0 Free Editorials 4 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Noonan Syndrome" returned 189 free, full-text research articles. First few results:
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Last Updated: May 05, 2020

Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants ...

LZTR1: Genotype Expansion in Noonan Syndrome.
Last Updated: May 25, 2020

LZTR1 participates in RAS protein degradation, hence limiting the RAS/MAPK cascade. Pathogenic mutations in LZTR1 (MIM:600574) have been described in a few patients with Noonan syndrome (NS). Three patients with LZTR1 mutations of different genetic transmission and NS phenotype are ...

Full PubMed Research articles matches at NCBI:
189 Free Research Articles 670 Research Articles