Evidence map›Paper›PMID 37775264›Full record

ArticleJournal of medical genetics2024

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.

Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq and 7 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article 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 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

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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

17 authors at 6 institutions in 1 country.

Léa Guerrini-RousseauDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France lea.guerrini-rousseau@gustaveroussy.fr.ORCID 0000-0003-0050-5407
Eric PasmantDepartment of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.ORCID 0000-0002-1881-8762
Martine MulerisDepartment of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.
Samuel AbbouDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Tiphaine Adam-De-BeaumaisDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Laurence BrugieresDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Odile CabaretDepartment of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.
Chrystelle ColasDepartment of Genetics, Institut Curie, PSL Research University, Paris, France.ORCID 0000-0001-9146-9346
Sophie CotteretDepartment of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.
Philippe DecqNeurosurgery Department, Beaujon Hospital, Paris Cité University, Paris, France.
Christelle DufourDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Erell GuillermDepartment of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.
Etienne RouleauDepartment of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France.
Pascale VarletService de Neuropathologie, GHU Psychiatrie et Neurosciences, site Sainte-Anne, Paris, France.
Saïma ZiliMolecular Predictors and New Targets in Oncology, Inserm U981 Team "Genomics and Oncogenesis of pediatric Brain Tumors", Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Dominique VidaudDepartment of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.
Jacques GrillDepartment of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.
Inserm · FRInstitut Gustave Roussy · FRUniversité Paris Cité · FRCentre National de la Recherche Scientifique · FRFHU Neurovasc · FRUniversité Paris-Saclay · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Differential diagnosis between

Indexed as

Brain NeoplasmsColorectal NeoplasmsNeoplastic Syndromes, HereditaryNeurofibromatosis 1DNA Mismatch RepairFemaleHumansMismatch Repair Endonuclease PMS2MosaicismRetrospective StudiesMismatch Repair Endonuclease PMS2DNA RepairGenetic CounsellingGenetic Predisposition to DiseaseNeoplasmsPaediatrics

Identifiers

PMID37775264
PMCPMC10850717
OpenAlexW4387165896

What Socratic 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 Socratic graph.