Evidence map›Paper›PMID 31191616›Full record

ArticleFrontiers in genetics2019

A New

Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé and 4 more

Registry-linked trialOpen access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02397824 (Orodental Manifestations of Rare Diseases), which is not on this map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.5field-weighted citation impact, top 18% 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.

NCT02397824 recruitingnot on this map

Orodental Manifestations of Rare Diseases

TypeobservationalSponsorUniversity Hospital, Strasbourg, FranceRan2015 to 2035Enrolled1,300ConditionsRare Disease OrodontalArmsSalivary and blood samples
3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 30 citations in OpenAlex.

  1. Frontiers in microbiology · 2026
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  7. Frontiers in physiology · 2023
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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

14 authors at 4 institutions in 2 countries.

Virginie Laugel-HaushalterLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
Séverine BärLaboratoire de Génétique Moléculaire, Génomique, Microbiologie (GMGM), UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg, Strasbourg, France.
Elise SchaeferLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
Corinne StoetzelLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
Véronique GeoffroyLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
Yves AlembikService de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, IGMA, Strasbourg, France.
Naji KharoufFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Mathilde HuckertFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Pauline HammFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Joseph HemmerléFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Marie-Cécile ManièreFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Sylvie FriantLaboratoire de Génétique Moléculaire, Génomique, Microbiologie (GMGM), UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg, Strasbourg, France.
Hélène DollfusLaboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
Agnès Bloch-ZupanFaculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Université de Strasbourg · FRInserm · FRCentre National de la Recherche Scientifique · FRHôpitaux Universitaires de Strasbourg · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of

Indexed as

amelogenesis imperfectahumanNGS (next generation sequencing)rare diseasesskeletal dysplasia

Identifiers

PMID31191616
PMCPMC6546871
OpenAlexW2946912527

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.