ArticleEuropean journal of pediatrics2006
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Article in European journal of pediatrics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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
18 citing papers in PubMed, 39 citations in OpenAlex.
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026Article
- Deciphering the structural and dynamic effects of SHP2-E76 mutations: mechanistic insights into oncogenic activation.BMC chemistry · 2025Article
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.European journal of human genetics : EJHG · 2024Observational
- SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.Cellular and molecular life sciences : CMLS · 2023Article
- Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.Circulation. Genomic and precision medicine · 2023Article
- Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.Orphanet journal of rare diseases · 2019Article
- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Human mutation · 2018Article
- 3D printing of severe hypertrophic cardiomyopathy in a child with Rasopathy.Irish journal of medical science · 2018Article
- Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines.Journal of molecular and cellular cardiology · 2017Article
- Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.American journal of medical genetics. Part A · 2015Article
- A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.American journal of medical genetics. Part A · 2012Article
- RASopathies: Clinical Diagnosis in the First Year of Life.Molecular syndromology · 2011Article
- LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.Annals of pediatric cardiology · 2011Article
- LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.European journal of pediatrics · 2010Review
- PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?Pediatric cardiology · 2009Article
- Costello syndrome: clinical diagnosis in the first year of life.European journal of pediatrics · 2008Article
- Leopard syndrome.Orphanet journal of rare diseases · 2008Review
- A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.
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.