Associated Papers
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.
Kamps R et al.
Molecular Genetics & Genomic Medicine, 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Hany U et al.
Human Mutation, 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
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 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
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.
Wang SK et al.
Journal of Dental Research, 2021
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
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nowwarote N et al.
Oral Diseases, 2018
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2016
26788537 (PubMed )
Supplement: MGG3-4-046-s001.pdf
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
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
Zhang C et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
Haubek D et al.
International Journal of Paediatric Dentistry, 2011
FAM83H mutations cause ADHCAI and alter intracellular protein localization.
Lee SK et al.
Journal of Dental Research, 2011
Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
El-Sayed W et al.
Cells, Tissues, Organs, 2010
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