Evidence map›Paper›PMID 39736869›Full record

ArticleFrontiers in endocrinology2024

Heterodisomy in the

Africa Manero-Azua, Yerai Vado, Judith Gonzàlez Morlà, Eduard Mogas, Arrate Pereda, Guiomar Perez de Nanclares

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

6 authors.

Africa Manero-Azua *Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Yerai Vado *Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Judith Gonzàlez MorlàPediatric Endocrinology Section, Hospital Comarcal de Palamós, Girona, Spain.
Eduard MogasPediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Arrate PeredaRare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Guiomar Perez de NanclaresRare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3. Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The Methods: We present the case of a patient clinically diagnosed with iPPSD3. We performed a commercial methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), single-nucleotide polymorphism (SNP) array, and microsatellite study. In addition, we designed a custom MS-MLPA to analyze Results: A methylation defect at the four Conclusions: Paternal uniparental heterodisomy (hUPD) at the

Indexed as

ChromograninsDNA MethylationGTP-Binding Protein alpha Subunits, GsPseudohypoparathyroidismGenomic ImprintingHumansPolymorphism, Single NucleotideUniparental DisomyChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, GsGNASheterodisomyiPPSD3MS-MLPAPHP1Bupd(20)pat

Identifiers

PMID39736869
PMCPMC11682883

What Socratic 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 Socratic graph.