Evidence map›Paper›PMID 34876502›Full record

ArticleJournal of medical genetics2023

Biallelic

Marie F Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L Holla, Miikka Vikkula

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

6 citing papers in PubMed, 9 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

9 authors at 4 institutions in 2 countries.

Marie F SmelandDepartment of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.ORCID 0000-0002-1015-6338
Pascal BrouillardHuman Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium.ORCID 0000-0001-9548-8229
Trine PrescottDepartment of Medical Genetics, Telemark Hospital, Skien, Norway.
Laurence M BoonCenter for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium.ORCID 0000-0001-8273-3328
Bodil HvingelDepartment of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.
Cecilie V NordbakkenDepartment of Clinical Pathology, University Hospital of North Norway, Tromsø, Norway.
Mona NystadDepartment of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.ORCID 0000-0002-0555-6951
Øystein L HollaDepartment of Medical Genetics, Telemark Hospital, Skien, Norway oholla@sthf.no.ORCID 0000-0002-7697-857X
Miikka VikkulaHuman Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium.ORCID 0000-0002-6236-338X
University Hospital of North Norway · NOCliniques Universitaires Saint-Luc · BETelemark Hospital · NOde Duve Institute · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHydrops fetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis. METHODS AND

resultsWhole exome sequencing in four fetuses with hydrops fetalis revealed that they were homozygous for the angiopoietin-2 (

conclusionPathogenic heterozygous

Indexed as

Angiopoietin-2Hydrops FetalisAnimalsCodon, NonsenseFemaleHeterozygoteHumansInfant, NewbornMiceMutation, MissensePregnancyAngiopoietin-2ANGPT2 protein, humanCodon, Nonsensefemale urogenital diseases and pregnancy complicationsgeneticsloss of function mutationmedical

Identifiers

PMID34876502
PMCPMC9811075
OpenAlexW4200160964

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.