Associated Papers
Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.
Leban T et al.
Genes, 2025
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.
Kamps R et al.
Molecular Genetics & Genomic Medicine, 2025
Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
Xie Y et al.
Clinical Oral Investigations, 2023
An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature
Leban T et al.
Genes, 2022
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Doucette LP et al.
European Journal of Human Genetics : Ejhg, 2021
33776059 (PubMed )
Supplement: 41431_2021_872_MOESM2_ESM.xlsx › Sheet1
Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H.
Tachie-Menson T et al.
Cellular Signalling, 2020
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation.
Nowwarote N et al.
Genes & Diseases, 2019
The Enamel Phenotype in Homozygous Fam83h Truncation Mice.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2019
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nowwarote N et al.
Oral Diseases, 2018
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.
Urzúa B et al.
Archives of Oral Biology, 2015
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