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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:
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Last Updated: Aug 03, 2020

Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1. Congenital heart defects and cardiomyopathy (CMP) are associated with significant morbidity and mortality in NS. Although hypertrophic CMP has "classically" been reported in association ...

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.

Full PubMed Review articles matches at NCBI:
15 Free Review Articles 63 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 192 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 ...

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Last Updated: Jul 29, 2020

RASopathies are a set of syndromes with phenotypic overlapping features caused by gene mutations involved in the RAS/MAPK pathway. They are autosomal dominantly inherited and share common clinical characteristics, including short stature, craniofacial dysmorphisms, congenital heart ...

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192 Free Research Articles 677 Research Articles