Evidence map›Paper›PMID 29796285›Full record

ArticleHuman genome variation2018

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.

Hirokazu Morokawa, Motoko Kamiya, Keiko Wakui, Mikiko Kobayashi, Takashi Kurata, Kazuyuki Matsuda, Rie Kawamura, Hiroyuki Kanno, Yoshimitsu Fukushima, Yozo Nakazawa and 1 more

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

Article in Human genome variation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 2 institutions in 1 country.

Hirokazu Morokawa *1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Motoko Kamiya *1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Keiko Wakui2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Mikiko Kobayashi4Department of Pathology, Shinshu University School of Medicine, Matsumoto, Japan.
Takashi Kurata1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Kazuyuki Matsuda5Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
Rie Kawamura2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Hiroyuki Kanno4Department of Pathology, Shinshu University School of Medicine, Matsumoto, Japan.
Yoshimitsu Fukushima2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Yozo Nakazawa1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Tomoki Kosho2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Shinshu University · JPShinshu University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.

Identifiers

PMID29796285
PMCPMC5960645
OpenAlexW2803240582

What OpenQuestion holds

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Registered trials

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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.