Evidence map›Paper›PMID 39040671›Full record

ArticleFrontiers in endocrinology2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the

Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer and 3 more

Abstract read
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. Review
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

13 authors.

Mónica Fernández-CancioGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
María AntolínDepartment of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
María ClementeGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Ariadna Campos-MartorellGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Eduard MogasGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Noelia Baz-RedónGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Jordi Leno-ColoradoDepartment of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Gemma Comas-ArmanguéDepartment of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Elena García-ArumíCentre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Laura Soler-ColomerPediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Núria González-LlorensPediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Núria Camats-TarruellaGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Diego YesteGrowth and Development group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to Methods: A CH high-throughput sequencing-panel of the main genes involved in the regulation of thyroid hormonogenesis was performed to identify those Results: We identified 21 Discussions: In this study, 10 novel and 11 previously reported variants in the

Indexed as

Congenital HypothyroidismThyroglobulinAdolescentAdultChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMaleMutationPhenotypeThyroid DysgenesisTG protein, humanThyroglobulincongenital hypothyroidismgene variantTGthyroglobulinthyroid dyshormonogenesis

Identifiers

PMID39040671
PMCPMC11260715

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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.