Evidence map›Paper›PMID 33506157›Full record

ArticleJournal of the Endocrine Society2021

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention.

Stéphanie Larrivée-Vanier, Fabien Magne, Elwaseila Hamdoun, Anna Petryk, Zoha Kibar, Guy Van Vliet, Johnny Deladoëy

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of the Endocrine Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 49% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.Inquiry : a journal of medical care organization, provision and financing
    Pooled it
  2. Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Thyroid : official journal of the American Thyroid Association · 2022
    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

7 authors at 2 institutions in 3 countries.

Stéphanie Larrivée-VanierResearch Center of Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
Fabien MagneResearch Center of Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
Elwaseila HamdounDivision of Pediatric Endocrinology, University of Minnesota, Minneapolis, MN, USA.
Anna PetrykDivision of Pediatric Endocrinology, University of Minnesota, Minneapolis, MN, USA.
Zoha KibarResearch Center of Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
Guy Van VlietResearch Center of Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.ORCID 0000-0002-1113-590X
Johnny DeladoëyResearch Center of Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.ORCID 0000-0002-2060-1730
Centre Hospitalier Universitaire Sainte-Justine · CAUniversity of Minnesota · US

Funding

Pre-Faculty Research Training in Pediatric EndocrinologyT32DK065519 · NIDDK · UNIVERSITY OF MINNESOTA TWIN CITIES · PI BELLIN, MELENA D. · 2004 to 2024
$3.6M
NIDDK NIH HHS T32 DK065519
6 · The paper itself

Abstract

In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in

Indexed as

birth defectsdiagnosisnongoitrous congenital hypothyroidismTSHR inactivationwhole exome sequencing

Identifiers

PMID33506157
PMCPMC7814390
OpenAlexW3109361845

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.