Evidence map›Paper›PMID 38558627›Full record

ArticleCureus2024

Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.

Sotirios Sotiriou, Athina A Samara, Eleftherios Anastasakis, Athanasios Zikopoulos, Ioannis Papoulidis, Emmanouil Manolakos, Efterpi Pavlidou, Chara Skentou

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

Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

8 authors at 1 institution in 2 countries.

Sotirios SotiriouDepartment of Embryology, University of Thessaly, Larissa, GRC.
Athina A SamaraDepartment of Embryology, University of Thessaly, Larissa, GRC.
Eleftherios AnastasakisDepartment of Embryology, University of Thessaly, Larissa, GRC.
Athanasios ZikopoulosDepartment of Embryology, University of Thessaly, Larissa, GRC.
Ioannis PapoulidisClinical Laboratory Genetics, Access To Genome P.C., Athens, GRC.
Emmanouil ManolakosClinical Laboratory Genetics, Access To Genome P.C., Athens, GRC.
Efterpi PavlidouDepartment of Speech and Language Therapy, University of Ioannina, Ioannina, GRC.
Chara SkentouDepartment of Obstetrics and Gynecology, University of Thessaly, Larissa, GRC.
University of Thessaly · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis. The cytogenetic analysis showed findings related to clinical history and ultrasound findings related to the presence of a nucleotide change in c.578T>C with an amino acid change in p.Leu198Pro of the

Indexed as

corpus callosum (cc) agenesiahydrocephalusiugrl1cam genenext-generation sequencing (ngs)

Identifiers

PMID38558627
PMCPMC10979761
OpenAlexW4392232074

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.