Evidence map›Paper›PMID 38575304›Full record

Observational studyJournal of medical genetics2024

Phenotypic characterisation of

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod

Open access · hybridAbstract readObservational Study
In one paragraph

Observational study in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.2field-weighted citation impact, top 13% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Hereditary haemorrhagic telangiectasia.Nature reviews. Disease primers · 2025
    Review
  5. Review
  6. 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

10 authors at 3 institutions in 1 country.

Claire CaillotService de Génétique et Centre de référence pour la maladie de Rendu-Osler, Femme-Mère-Enfants Hospital, Hospices Civils de Lyon, Bron, France.
Jean-Christophe SaurinService de Gastroenterologie, Hôpital E. Herriot, Hospices Civils de Lyon, Lyon, France.
Valérie HervieuInstitut de Pathologie Est, Hospices Civils de Lyon, Lyon, France.
Marie FaoucherService de génétique, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.
Julie ReversatService de génétique, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.
Evelyne DecullierPôle Santé Publique, Hospices Civils de Lyon, Lyon, France.
Gilles PoncetUniversité Claude Bernard Lyon 1, Villeurbanne, France.
Sabine BaillyBiosanté Lab, Unit U1292, Health Department of IRIG, CEA de Grenoble, Grenoble, France.
Sophie GiraudService de génétique, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.
Sophie Dupuis-GirodService de Génétique et Centre de référence pour la maladie de Rendu-Osler, Femme-Mère-Enfants Hospital, Hospices Civils de Lyon, Bron, France sophie.dupuis-girod@chu-lyon.fr.ORCID 0000-0002-8834-5526
Hospices Civils de Lyon · FRUniversité Claude Bernard Lyon 1 · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBoth hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by

methodsObservational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database.

resultsThirty-three participants from 15 families, out of 1114 patients with HHT, had an

conclusionWe describe a large cohort of

Indexed as

PhenotypeSmad4 ProteinTelangiectasia, Hereditary HemorrhagicAdolescentAdultAgedFemaleGenetic Predisposition to DiseaseHeterozygoteHumansIntestinal PolyposisMaleMiddle AgedMutationNeoplastic Syndromes, HereditaryYoung AdultSmad4 ProteinSMAD4 protein, humangeneticspatient carepediatricsvascular diseases

Identifiers

PMID38575304
PMCPMC11287639
OpenAlexW4393951018

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.