ArticleFrontiers in physiology2016
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Article in Frontiers in physiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT02397824 (Orodental Manifestations of Rare Diseases), which is not on this map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Orodental Manifestations of Rare Diseases
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025Pooled it
- Beyond the diagnosis: UnravelingThe Japanese dental science review · 2026Review
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Article
- Article
- Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.Frontiers in physiology · 2021Article
- Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.Journal of dental research · 2019Article
- Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large family from a small village in Madagascar, Antanetilava, is known to present with colored teeth. Through previous collaboration and 4 successive visits in 1994, 2004, 2005, and 2012, we provided dental care to the inhabitants and diagnosed dentinogenesis imperfecta. Recently, using whole exome sequencing we confirmed the clinical diagnosis by identifying a novel single nucleotide deletion in exon 5 of DSPP. This paper underlines the necessity of long run research, the importance of international and interpersonal collaborations as well as the major contribution of next generation sequencing tools in the genetic diagnosis of rare oro-dental anomalies. This study is registered in ClinicalTrials (https://clinicaltrials.gov) under the number NCT02397824.
Indexed as
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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.