Evidence map›Paper›PMID 37568403›Full record

ArticleJournal of clinical medicine2023

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro and 5 more

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 25% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
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

15 authors at 8 institutions in 1 country.

Atilano CarcavillaPediatric Endocrinology Department, Hospital Universitario La Paz, 28046 Madrid, Spain.
Ana CambraMolecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.ORCID 0000-0003-2608-3177
José L SantoméMolecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.
Verónica SeidelClinical Genetics Unit, Pediatrics Department, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.
Jaime CruzPediatrics Department, Hospital Universitario Doce de Octubre, 28041 Madrid, Spain.
Milagros AlonsoPediatrics Department, Hospital Ramón y Cajal, 28034 Madrid, Spain.
Jesús PozoPediatric Endocrinology Department, Hospital Universitario Niño Jesús, 28009 Madrid, Spain.ORCID 0000-0001-9708-8923
Irene ValenzuelaGenetics Department, Hospital Universitario Vall D'Hebrón, 08035 Barcelona, Spain.ORCID 0000-0003-2350-6058
Encarna Guillén-NavarroGenetics Department, Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
Fernando Santos-SimarroMultidisciplinary Unit for RASopathies, Hospital Universitario La Paz, 28046 Madrid, Spain.
Isabel González-CasadoPediatric Endocrinology Department, Hospital Universitario La Paz, 28046 Madrid, Spain.
Amparo RodríguezGregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain.
Constancio MedranoGregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain.
Juan Pedro López-SigueroPediatric Endocrinology Department, Hospital Regional Universitario de Málaga, 29010 Málaga, Spain.ORCID 0000-0001-9282-9139
Begoña EzquietaMolecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.
Hospital General Universitario Gregorio Marañón · ESHospital Universitario La Paz · ESHospital Infantil Universitario Niño Jesús · ESHospital Regional Universitario de Málaga · ESHospital Universitario 12 De Octubre · ESHospital Universitario Ramón y Cajal · ESHospital Universitario Virgen de la Arrixaca · ESVall d'Hebron Hospital Universitari · ES

Funding

Fondo de Investigaciones Sanitarias 06/1179
6 · The paper itself

Abstract

Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than

Indexed as

geneticgrowthgrowth hormoneNoonan syndromePTPN11Ras/MAPK pathwayRASopathiesshort stature

Identifiers

PMID37568403
PMCPMC10420167
OpenAlexW4385423696

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.