ReviewInternational journal of pediatrics & adolescent medicine2016
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.
Review in International journal of pediatrics & adolescent medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 3 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Pooled it
- Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.European journal of pediatrics · 2025Pooled it
- Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.International journal of molecular sciences · 2025Pooled it
- Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 -Related Noonan Syndrome.Clinical genetics · 2026Article
- Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric CohortJournal of clinical research in pediatric endocrinology · 2026Observational
- Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.HGG advances · 2026Article
- Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort study.BMC medicine · 2026Article
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.bioRxiv : the preprint server for biology · 2025Article
- Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.World journal of clinical pediatrics · 2025Article
- Heterogeneity of Orodental Features in a Family with Noonan Syndrome.International journal of molecular sciences · 2025Article
- Noonan syndrome withTranslational pediatrics · 2025Article
- Reporter-based screening identifies RAS-RAF mutations as drivers of resistance to active-state RAS inhibitors in colorectal cancer.Science signaling · 2025Article
- Trametinib alters contractility of paediatric Noonan syndrome-associated hypertrophic myocardial tissue slices.ESC heart failure · 2025Article
- Understanding the genetic complexity of puberty timing across the allele frequency spectrum.Nature genetics · 2024Article
- PTPN11/Corkscrew Activates Local Presynaptic Mapk Signaling to Regulate Synapsin, Synaptic Vesicle Pools, and Neurotransmission Strength, with a Dual Requirement in Neurons and Glia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Insulin signaling and its application.Frontiers in endocrinology · 2023Review
- Clonal evolution in tyrosine kinase inhibitor-resistance: lessons fromFrontiers in oncology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.