Evidence map›Paper›PMID 31590400›Full record

ArticleInternational journal of molecular sciences2019

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Márta Czakó, Ágnes Till, András Szabó, Réka Ripszám, Béla Melegh, Kinga Hadzsiev

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

Article in International journal of molecular sciences, 2019. 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 36% 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, 2 citations in OpenAlex.

  1. 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.

Márta CzakóDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. czako.marta@pte.hu.ORCID 0000-0003-3642-8028
Ágnes TillDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. till.agnes@pte.hu.
András SzabóDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. szabo.andras@pte.hu.
Réka RipszámDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. ripszam.reka@pte.hu.
Béla MeleghDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. melegh.bela@pte.hu.
Kinga HadzsievDepartment of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary. hadzsiev.kinga@pte.hu.
University of Pecs · HU

Funding

Comprehensive Developments at the University of Pécs to Implement Smart Specialization Project, EFOP 3.6.1-16-2016-00004Human Resources Development Operational Program, Ministry of Human Resources, Hungary and by the Medical School of University of Pécs; EFOP-3.6.3-VEKOP-16-2017-00009Medical School of University of Pécs, "ÁOK-KA" Research Program; KA-2019-23National Scientific Research Program (NKFI) K 119540Research University Resource, Institutional Excellence Grant 2016.; Centre for Excellence - Centre of Molecular Medicine; GINOP-2.3.2-15-2016-00039
6 · The paper itself

Abstract

Among human supernumerary marker chromosomes, the occurrence of isodicentric form of 15 origin is relatively well known due to its high frequency, both in terms of gene content and associated clinical symptoms. The associated epilepsy and autism are typically more severe than in cases with interstitial 15q duplication, despite copy number gain of approximately the same genomic region. Other mechanisms besides segmental aneuploidy and epigenetic changes may also cause this difference. Among the factors influencing the expression of members of the

Indexed as

PhenotypeChildChild, PreschoolChromosome BreakpointsChromosome DisordersChromosomes, Human, Pair 15FemaleGenetic HeterogeneityHumansInfantMaleReceptors, GABA-AReceptors, GABA-Aarray CGHautism spectrum disorderCHRNA7epilepsyGABAA gene clusteridic(15) syndromesupernumerary marker chromosome

Identifiers

PMID31590400
PMCPMC6801911
OpenAlexW2977971415

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.