Evidence map›Paper›PMID 32939518›Full record

ArticleGlobal medical genetics2020

Two Novel Pathogenic

Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Global medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Updated genetic studies of Marfan syndrome in China.Intractable & rare diseases research · 2021
    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

6 authors at 1 institution in 1 country.

Sinem YalcintepeDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Selma DemirDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Emine Ikbal AtliDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Murat DeveciDepartment of Pediatric Cardiology, Faculty of Medicine, Trakya University, Edirne, Turkey.
Engin AtliDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Hakan GurkanDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Trakya University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including

Indexed as

Marfan syndromenext-generation sequencingnovel variation

Identifiers

PMID32939518
PMCPMC7490121
OpenAlexW3081117504

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.