Evidence map›Paper›PMID 26380542›Full record

ArticleProgress in pediatric cardiology2015

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Bruce D Gelb, Amy E Roberts, Marco Tartaglia

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Progress in pediatric cardiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04395495 (Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.), which is not on this map. Cited by 59 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 2 pooled it
4.4field-weighted citation impact, top 5% of its field
1 · What the graph read from 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.

2 · The registry

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.

NCT04395495 recruitingnot on this mapstarted 2017, after this paper: background citation

Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies.

Typeobservational_patient_registrySponsorChildren's Hospital Medical Center, CincinnatiRan2017 to 2065Enrolled1,000ConditionsRAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
3 · Its place in the literature

Who cites it

59 citing papers in PubMed, 2 syntheses or guidelines pooled it, 126 citations in OpenAlex.

  1. Pooled it
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  19. Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome.Journal of cardiovascular development and disease · 2023
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 3 institutions in 2 countries.

Bruce D GelbMindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Amy E RobertsDepartment of Cardiology and Division of Genetics, Boston Children's Hospital, Boston, MA.
Marco TartagliaDipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Boston Children's Hospital · USChild Health and Development Institute · USIstituto Superiore di Sanità · IT

Funding

Molecular studies of Noonan syndrome and related disordersR01HL071207 · NHLBI · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GELB, BRUCE D · 2002 to 2016
$5.9M
NHLBI NIH HHS R01 HL071207
6 · The paper itself

Abstract

Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene,

Identifiers

PMID26380542
PMCPMC4568836
OpenAlexW2100676534

What OpenQuestion holds

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Read underepoch 390

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.