Evidence map›Paper›PMID 29642415›Full record

ArticleInternational journal of molecular sciences2018

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Elisa A Colombo, Andrea Locatelli, Laura Cubells Sánchez, Sara Romeo, Nursel H Elcioglu, Isabelle Maystadt, Altea Esteve Martínez, Alessandra Sironi, Laura Fontana, Palma Finelli and 3 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
4.1field-weighted citation impact, top 6% 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

17 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Article
  3. GermlineInternational journal of molecular sciences · 2023
    Article
  4. Review
  5. Review
  6. Review
  7. Review
  8. Review
  9. Article
  10. Mutations Involved in Premature-Ageing Syndromes.The application of clinical genetics · 2021
    Review
  11. Molecular Mechanisms of the RECQ4 Pathogenic Mutations.Frontiers in molecular biosciences · 2021
    Review
  12. Article
  13. Article
  14. Enrichment of heterozygous germlineCold Spring Harbor molecular case studies · 2019
    Article
  15. Article
  16. Article
  17. 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

13 authors at 8 institutions in 6 countries.

Elisa A ColomboDipartimento di Scienze della Salute, Università degli Studi di Milano, 20142 Milan, Italy. elisaadele.colombo@unimi.it.ORCID 0000-0001-9062-3188
Andrea LocatelliUO Dermatologia e Venereologia, Asst Papa Giovanni XXIII, 24127 Bergamo, Italy. anloc@tiscali.it.
Laura Cubells SánchezDepartment of Dermatology, Consorcio Hospital General Universitario de Valencia, 46014 Valencia, Spain. laura_cubells@hotmail.com.
Sara RomeoInstitute of Clinical Sciences, Imperial College London, London W12 0NN, UK. s.romeo@lms.mrc.ac.uk.
Nursel H ElciogluDepartment of Pediatric Genetics, Marmara University Medical School, 34890 Istanbul, Turkey. nelcioglu2@yahoo.com.
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Charleroi (Gosselies), Belgium. isabelle.maystadt@ipg.be.
Altea Esteve MartínezDepartment of Dermatology, Consorcio Hospital General Universitario de Valencia, 46014 Valencia, Spain. aemder@gmail.com.
Alessandra SironiLaboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. alessandra.sironi@unimi.it.
Laura FontanaDipartimento di Scienze della Salute, Università degli Studi di Milano, 20142 Milan, Italy. laura.fontana@unimi.it.
Palma FinelliLaboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. palma.finelli@unimi.it.ORCID 0000-0001-8464-6906
Cristina GervasiniDipartimento di Scienze della Salute, Università degli Studi di Milano, 20142 Milan, Italy. cristina.gervasini@unimi.it.
Vanna PecileInstitute for Maternal and Child Health, Foundation IRCCS Burlo Garofolo Institute, 34137 Trieste, Italy. vanna.pecile@burlo.trieste.it.
Lidia LarizzaLaboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. l.larizza@auxologico.it.
University of Milan · ITHospital General Universitario De Valencia · ESEastern Mediterranean University · CYInstitute of Pathology and Genetics · BEIRCCS Istituto Auxologico Italiano · ITIRCCS Materno Infantile Burlo Garofolo · ITMRC London Institute of Medical Sciences · GBOspedale Papa Giovanni XXIII · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic mutations in

Indexed as

MutationPhenotypeAdolescentAdultCell Line, TumorChildFemaleHomozygoteHumansMalePedigreeRecQ HelicasesRothmund-Thomson SyndromeRecQ HelicasesRECQL4 protein, humanclinical expressivityosteosarcoma outcomeRECQL4Rothmund-Thomson syndrometranscript analysis

Identifiers

PMID29642415
PMCPMC5979380
OpenAlexW2795812137

What OpenQuestion 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 OpenQuestion graph.