Evidence map›Paper›PMID 28685060›Full record

ArticleBiomedical reports2017

22q12.3 microduplication overlapping the

Xuan Huang, Yingjun Xie, Qun Fang

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

Article in Biomedical reports, 2017. 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
–field-weighted citation impact, top 95% 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. A Rare Case of Dysmorphism with Duplication in Chromosome 22.Indian journal of clinical biochemistry : IJCB · 2022
    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

3 authors at 3 institutions in 1 country.

Xuan HuangDepartment of Obstetrics and Gynecology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
Yingjun XieKey Laboratory for Major Obstetric Diseases of Guangdong, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China.
Qun FangDepartment of Obstetrics and Gynecology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
Sun Yat-sen University · CNThe First Affiliated Hospital, Sun Yat-sen University · CNThird Affiliated Hospital of Guangzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The present study describes a three-generation Chinese family with one male who was diagnosed with an autism spectrum disorder (ASD) disease. The male proband presented with features of an autism spectrum disorder. Magnetic resonance imaging demonstrated an abnormal high-intensity zone in the frontal white matter. Whole-genome single nucleotide polymorphism-microarray demonstrated an interstitial 575-kb duplication of chromosome 22p12.3 that involved the LARGE gene among the six family members, which included three healthy female carriers, the affected boy and two male fetuses. Fluorescence

Indexed as

autism spectrum disordercopy number variationLARGE genemicroduplication

Identifiers

PMID28685060
PMCPMC5492521
OpenAlexW2622591749

What OpenQuestion holds

Textmetadata
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.