Evidence map›Paper›PMID 33316910›Full record

ArticleGenes2020

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Anna A Kashevarova, Tatyana V Nikitina, Larisa I Mikhailik, Elena O Belyaeva, Stanislav A Vasilyev, Mariya E Lopatkina, Dmitry A Fedotov, Elizaveta A Fonova, Aleksei A Zarubin, Aleksei A Sivtsev and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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 1 institution in 1 country.

Anna A KashevarovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.ORCID 0000-0002-0716-4302
Tatyana V NikitinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Larisa I MikhailikRegional Clinical Center for Specialized Medical Care, 690091 Vladivostok, Russia.
Elena O BelyaevaResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Stanislav A VasilyevResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.ORCID 0000-0002-5301-070X
Mariya E LopatkinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Dmitry A FedotovResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Elizaveta A FonovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.ORCID 0000-0002-1338-5451
Aleksei A ZarubinResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.ORCID 0000-0001-6568-6339
Aleksei A SivtsevResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Nikolay A SkryabinResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Lyudmila P NazarenkoResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.
Igor N LebedevResearch Institute of Medical Genetics, Tomsk National Research Medical Center (NRMC), Ushaika Street 10, 634050 Tomsk, Russia.ORCID 0000-0002-0482-8046
Tomsk National Research Medical Center · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted

Indexed as

Child, PreschoolChromosome DeletionChromosomes, Human, Pair 8Craniofacial AbnormalitiesGenomic ImprintingHumansIntellectual DisabilityKaryotypeKaryotypingMaleMembrane ProteinsMosaicismMuscle HypotoniaMutationNerve Tissue ProteinsPhenotypeKCNK9 protein, humanLINGO2 protein, humanMembrane ProteinsNerve Tissue ProteinsPotassium Channels, Tandem Pore DomainBirk-Barel syndromeimprintinginvdupdel(8p)KCNK9ring chromosome 8

Identifiers

PMID33316910
PMCPMC7763634
OpenAlexW3112231685

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.