Evidence map›Paper›PMID 36200032›Full record

ArticleIntractable & rare diseases research2022

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Osamu Machida, Keiko Yamamoto Shimojima, Takashi Shiihara, Satoshi Akamine, Ryutaro Kira, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Satoru Nagata, Toshiyuki Yamamoto

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

Article in Intractable & rare diseases research, 2022. 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
0.4field-weighted citation impact, top 32% 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. Case report: A newFrontiers in genetics · 2023
    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

10 authors at 4 institutions in 1 country.

Osamu MachidaDepartment of Genetic Medicine, Division of Advanced Biomedical Sciences, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Keiko Yamamoto ShimojimaDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Takashi ShiiharaDepartment of Pediatric Neurology, Gunma Children's Medical Center, Gunma, Japan.
Satoshi AkamineDepartment of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
Ryutaro KiraDepartment of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
Yuiko HasegawaDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Eriko NishiDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Satoru NagataDepartment of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Toshiyuki YamamotoDepartment of Genetic Medicine, Division of Advanced Biomedical Sciences, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Tokyo Women's Medical University · JPOsaka Women's and Children's Hospital · JPFukuoka Children's Hospital and Medical Center for Infectious Diseases · JPGunma Children's Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions were detected by chromosomal microarray testing. To confirm the clinical significance of these deletions, genotype-phenotype correlation analysis was performed using genetic and predicted loss-of-function data.

Indexed as

6q interstitial deletionschromosomal microarray testingdevelopmental delay

Identifiers

PMID36200032
PMCPMC9438003
OpenAlexW4291673162

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.