Evidence map›Paper›PMID 29593476›Full record

ArticleMolecular syndromology2018

Novel and Recurrent Mutations in the

Maria E S Gomes, Thatiane Y Kanazawa, Fernanda R Riba, Natálya G Pereira, Maria C C Zuma, Natana C Rabelo, Maria T Sanseverino, Dafne D G Horovitz, Juan C Llerena, Denise P Cavalcanti and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Molecular syndromology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

7 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
  2. [Preparation of GH/tPA double transgenic mice and gene expression analysis].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021
    Article
  3. Skeletal dysplasias in Latin America.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    Review
  4. Article
  5. Frontiers in immunology · 2020
    Review
  6. Achondroplasia: a comprehensive clinical review.Orphanet journal of rare diseases · 2019
    Review
  7. 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

11 authors at 3 institutions in 1 country.

Maria E S GomesLaboratório de Medicina Genômica, Departamento de Genética Médica.
Thatiane Y KanazawaDepartamento de Genética Médica, Grupo de Displasias Esqueléticas, FCM-UNICAMP, São Paulo, Brazil.
Fernanda R RibaLaboratório de Medicina Genômica, Departamento de Genética Médica.
Natálya G PereiraCentro de Genética Médica - IFF/Fiocruz.
Maria C C ZumaLaboratório de Medicina Genômica, Departamento de Genética Médica.
Natana C RabeloLaboratório de Medicina Genômica, Departamento de Genética Médica.
Maria T SanseverinoUniversidade Federal do Rio Grande do Sul (UFRGS).
Dafne D G HorovitzCentro de Genética Médica - IFF/Fiocruz.
Juan C LlerenaCentro de Genética Médica - IFF/Fiocruz.
Denise P CavalcantiDepartamento de Genética Médica, Grupo de Displasias Esqueléticas, FCM-UNICAMP, São Paulo, Brazil.
Sayonara GonzalezLaboratório de Medicina Genômica, Departamento de Genética Médica.
Universidade Estadual de Campinas (UNICAMP) · BRNational Institute on Population Medical Genetics · BRUniversidade Federal do Rio Grande do Sul · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the fibroblast growth factor receptor 3 gene (

Indexed as

AchondroplasiaDouble heterozygosityFGFR3High-resolution meltingHypochondroplasiaThanatophoric dysplasia

Identifiers

PMID29593476
PMCPMC5836216
OpenAlexW2792034598

What OpenQuestion holds

Textmetadata
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.