Evidence map›Paper›PMID 40771185›Full record

ArticleMolecular syndromology2025

A Novel

Isabela Dorneles Pasa, Alessandra Caren Frey, Suelly Fazio Ferraciolli, Leandro Tavares Lucato, Mariana Azevedo Carvalho, Mario Vitor Caldeira Pagotto, Mario Henrique Burlacchini De Carvalho, Rossana Pulcineli Vieira Francisco, Rachel Sayuri Honjo, Debora Romeo Bertola and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2025. 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
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.

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.

Isabela Dorneles PasaMedical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Alessandra Caren FreyInterventional Radiology and Endovascular Surgery Unit, Instituto de Radiologia do Hospital de Clínicas da Faculdade de Medicina da USP (InRad/HC-FMUSP), São Paulo, Brazil.
Suelly Fazio FerraciolliNeuroradiology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Leandro Tavares LucatoNeuroradiology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Mariana Azevedo CarvalhoObstetrics and Gynaecology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Mario Vitor Caldeira PagottoObstetrics and Gynaecology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Mario Henrique Burlacchini De CarvalhoObstetrics and Gynaecology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Rossana Pulcineli Vieira FranciscoObstetrics and Gynaecology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Rachel Sayuri HonjoMedical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Debora Romeo BertolaMedical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Chong Ae KimMedical Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: NOTCH3, one of the four mammalian Notch receptors, acts as a transcriptional activator in a variety of tissues. Variants in Case Presentation: We report the first case of prenatal molecular diagnosis of LMS, which was made using prenatal exome sequencing after an ultrasound with findings of fetal cystic hygroma, mild bilateral ventriculomegaly, and facial dysmorphisms. After birth, magnetic resonance imaging confirmed the presence of lateral meningoceles. A complete clinical evaluation was performed and unexpected biliary anomalies were found. Conclusion: The occurrence of biliary anomalies has not been previously reported in LMS but may have biological plausibility. Expression of

Indexed as

Clinical GeneticsDysmorphologyFetal exome sequencingNeurologyPrenatal Diagnosis

Identifiers

PMID40771185
PMCPMC12324726

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.