Evidence map›Paper›PMID 29456483›Full record

ArticleMolecular syndromology2017

Two Novel Pathogenic

Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2017. 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
–field-weighted citation impact, top 89% 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, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
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

10 authors at 5 institutions in 2 countries.

Nuno MaiaUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Maria J Nabais SáServiço de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Nataliya TkachenkoServiço de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Gabriela SoaresServiço de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Isabel MarquesUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Bárbara RodriguesUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Ana M FortunaServiço de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Rosário SantosUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
Paula JorgeUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.
Universidade do Porto · PTCentro Hospitalar do Porto · PTCentro de Genética Clínica · PTRadboud University Nijmegen · NLUniversity of Aveiro · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene (

Indexed as

Genotype-phenotype correlationMID1 pathogenic variantsX-linked Opitz G/BBB syndrome

Identifiers

PMID29456483
PMCPMC5803688
OpenAlexW2750160062

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.