Evidence map›Paper›PMID 32443863›Full record

ArticleGenes2020

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Thomas Grange, Mélodie Aubart, Maud Langeois, Louise Benarroch, Pauline Arnaud, Olivier Milleron, Ludivine Eliahou, Marie-Sylvie Gross, Nadine Hanna, Catherine Boileau and 2 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.9field-weighted citation impact, top 9% 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, 25 citations in OpenAlex.

  1. Review
  2. Genetic analysis of a novelIntractable & rare diseases research · 2024
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. 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

12 authors at 4 institutions in 1 country.

Thomas GrangeINSERM U1148, 75018 Paris, France.
Mélodie AubartINSERM U1148, 75018 Paris, France.
Maud LangeoisCentre National de Référence Pour le Syndrome de Marfan et Apparentés, AP-HP, Hôpital Bichat, 75018 Paris, France.
Louise BenarrochINSERM U1148, 75018 Paris, France.ORCID 0000-0003-2805-9170
Pauline ArnaudINSERM U1148, 75018 Paris, France.ORCID 0000-0001-9727-1592
Olivier MilleronService de Cardiologie, Centre National de Référence Pour le Syndrome de Marfan et Apparentés, AP-HP, Hôpital Bichat, 75018 Paris, France.
Ludivine EliahouService de Cardiologie, Centre National de Référence Pour le Syndrome de Marfan et Apparentés, AP-HP, Hôpital Bichat, 75018 Paris, France.
Marie-Sylvie GrossINSERM U1148, 75018 Paris, France.
Nadine HannaDépartement de Génétique, Centre National de Référence Pour le Syndrome de Marfan et Apparentés, AP-HP, Hôpital Bichat, 75018 Paris, France.
Catherine BoileauINSERM U1148, 75018 Paris, France.
Laurent GouyaCentre National de Référence Pour le Syndrome de Marfan et Apparentés, AP-HP, Hôpital Bichat, 75018 Paris, France.
Guillaume JondeauINSERM U1148, 75018 Paris, France.ORCID 0000-0002-0101-2076
Inserm · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Toulouse · FRHôpital Necker-Enfants Malades · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying

Indexed as

AdipokinesAdolescentAdultAgedAged, 80 and overAortaEctopia LentisFemaleFibrillin-1FibrillinsGenotypeHumansMaleMarfan SyndromeMicrofilament ProteinsMiddle AgedAdipokinesFBN1 protein, humanFibrillin-1FibrillinsMicrofilament Proteinsfibrillinheritabilitymarfanmodifiers

Identifiers

PMID32443863
PMCPMC7288268
OpenAlexW3027504841

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.