Evidence map›Paper›PMID 34356041›Full record

ArticleGenes2021

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Magdalena Budisteanu, Sorina Mihaela Papuc, Ioana Streata, Mihai Cucu, Andrei Pirvu, Simona Serban-Sosoi, Alina Erbescu, Emanuela Andrei, Catrinel Iliescu, Doina Ioana and 3 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

14 citing papers in PubMed, 23 citations in OpenAlex.

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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 1 country.

Magdalena BudisteanuDepartment of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Sorina Mihaela PapucMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-1352-3535
Ioana StreataHuman Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Mihai CucuHuman Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Andrei PirvuHuman Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Simona Serban-SosoiHuman Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Alina ErbescuMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0003-1349-2895
Emanuela AndreiDepartment of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Catrinel IliescuDepartment of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Doina IoanaDepartment of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Emilia SeverinDepartment of Genetics, Faculty of Dental Medicine, "Carol Davila" University of Medicine and Pharmacy Bucharest, 050474 Bucharest, Romania.
Mihai IoanaHuman Genomics Laboratory, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Aurora ArghirMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-9315-5604
University of Medicine and Pharmacy of Craiova · ROClinical Emergency Hospital Bucharest · ROInstitutul National Victor Babes · ROCarol Davila University of Medicine and Pharmacy · ROTitu Maiorescu University · RO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the Cholinergic Receptor Nicotinic Alpha 7 Subunit (

Indexed as

Chromosome DuplicationChromosomes, Human, Pair 15PhenotypeAdolescentalpha7 Nicotinic Acetylcholine ReceptorAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderChildChild, PreschoolDevelopmental DisabilitiesFemaleHumansIntellectual DisabilityMaleMicroarray AnalysisMuscle Hypotoniaalpha7 Nicotinic Acetylcholine ReceptorChrna7 protein, humanASDsCHRNA7 duplicationschromosomal microarraysclinical significancephenotype variability

Identifiers

PMID34356041
PMCPMC8306426
OpenAlexW3173890634

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.