Evidence map›Paper›PMID 31213145›Full record

ArticleInternational journal of circumpolar health2019

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the

Nikolay A Barashkov, Georgii P Romanov, Uigulaana P Borisova, Aisen V Solovyev, Vera G Pshennikova, Fedor M Teryutin, Alexander A Bondar, Igor V Morozov, Elza K Khusnutdinova, Olga L Posukh and 3 more

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

Article in International journal of circumpolar health, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 34% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

13 authors at 5 institutions in 2 countries.

Nikolay A Barashkova Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.ORCID 0000-0002-6984-7934
Georgii P Romanova Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.
Uigulaana P Borisovab Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia.
Aisen V Solovyeva Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.
Vera G Pshennikovaa Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.ORCID 0000-0001-6866-9462
Fedor M Teryutina Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.ORCID 0000-0002-8659-0886
Alexander A Bondard Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine , Siberian Branch of the Russian Academy of Sciences , Novosibirsk , Russia.ORCID 0000-0001-9181-0487
Igor V Morozovd Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine , Siberian Branch of the Russian Academy of Sciences , Novosibirsk , Russia.
Elza K Khusnutdinovaf Laboratory of Human Molecular Genetics, Ufa Federal Research Center of Russian Academy of Sciences, Institute of Biochemistry and Genetics , Ufa , Russia.
Olga L Posukhe Novosibirsk State University , Novosibirsk , Russia.
Tatiana E Burtsevai Department of Pediatrics and Child Surgery , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia.
Jon Øyvind Odlandk Department of Public Health and Nursing, Faculty on Medicine and Health Sciences , NTNU The Norwegian University of Science and Technology , Trondheim , Norway.
Sardana A Fedorovaa Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.
North-Eastern Federal University · RUNovosibirsk State University · RUBashkir State University · RUInstitute of Chemical Biology and Fundamental Medicine · RUNorwegian University of Science and Technology · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenotypic characteristics are now described. We performed a Sanger sequencing of coding regions of genes

Indexed as

AdolescentHearing Loss, UnilateralHumansMaleMicrophthalmia-Associated Transcription FactorPhenotypeSiberiaWaardenburg SyndromeMicrophthalmia-Associated Transcription FactorMITF protein, humanEastern SiberiaMITFRussiaSakha RepublicWaardenburg syndrome

Identifiers

PMID31213145
PMCPMC6586136
OpenAlexW2949160735

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.