Evidence map›Paper›PMID 41009948›Full record

ReviewGenes2025

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Paolo Fontana, Claudia Costabile, Mariateresa Falco, Maria Rosaria Barillari, Fortunato Lonardo

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. 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

5 authors.

Paolo FontanaMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0002-4217-184X
Claudia CostabileAOU "L. Vanvitelli", Dipartimento di Salute Mentale e Fisica e Medicina preventiva, Servizio di Audiologia e Foniatria, 80138 Napoli, Italy.
Mariateresa FalcoMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0003-3214-6437
Maria Rosaria BarillariAOU "L. Vanvitelli", Dipartimento di Salute Mentale e Fisica e Medicina preventiva, Servizio di Audiologia e Foniatria, 80138 Napoli, Italy.ORCID 0000-0002-5457-1509
Fortunato LonardoMedical Genetics Unit, P.O. Gaetano Rummo, A.O.R.N. San Pio, 82100 Benevento, Italy.ORCID 0000-0002-5712-0754

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maturity-Onset Diabetes of the Young Type 5 (MODY5) is caused by heterozygous pathogenic variants in the

Indexed as

Chromosomes, Human, Pair 17Diabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-betaChromosome DeletionFemaleGenetic CounselingHumansPhenotypePregnancyPrenatal DiagnosisHepatocyte Nuclear Factor 1-betaHNF1B protein, human17q12 deletionHNF1BMODY5neurodevelopmental disorderspolycystic kidneyprenatal diagnosis

Identifiers

PMID41009948
PMCPMC12469521

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.