Evidence map›Paper›PMID 34356094›Full record

ArticleGenes2021

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with

Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

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PubMed Full text at PMC Publisher
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
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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

8 authors at 2 institutions in 1 country.

Agnieszka StembalskaDepartment of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.ORCID 0000-0003-3528-6582
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0002-6969-0535
Agnieszka PollakDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Grazyna KostrzewaDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Piotr StawinskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Mateusz BielaDepartment of Paediatrics, Division of Paediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.ORCID 0000-0002-3461-193X
Rafal PloskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Robert SmigielDepartment of Paediatrics, Division of Paediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.ORCID 0000-0003-2930-9549
Medical University of Warsaw · PLWroclaw Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a prenatal diagnosis of polycystic kidney disease are presented in this article.

Indexed as

Abnormalities, MultipleCerebellumCiliary Motility DisordersDiagnosis, DifferentialEncephaloceleExome SequencingEye AbnormalitiesFemaleHumansKidney Diseases, CysticMembrane ProteinsMutationPolycystic Kidney DiseasesPregnancyPrenatal DiagnosisRetinaMembrane ProteinsTMEM67 protein, humangenetic and phenotypic diagnosisJoubert syndromeMeckel–Gruber syndromeprenatal and postnatal diagnosisTMEM67 gene

Identifiers

PMID34356094
PMCPMC8304314
OpenAlexW3186911676

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.