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 analysis and multidisciplinary treatment of a pedigree affected with autosomal dominant hypocalcified amelogenesis imperfecta].
Cui MJ et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2025
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 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
Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.
Tan L et al.
Clinical Oral Investigations, 2023
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
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nowwarote N et al.
Oral Diseases, 2018
Novel FAM83H mutations in patients with amelogenesis imperfecta.
Xin W et al.
Scientific Reports, 2017
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2016
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
Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.
Pourhashemi SJ et al.
Iranian Journal of Public Health, 2014
Molecular characterization of amelogenesis imperfecta in Chinese patients.
Song YL et al.
Cells, Tissues, Organs, 2012
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
Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
Hyun HK et al.
International Endodontic Journal, 2009
Fam83h is associated with intracellular vesicles and ADHCAI.
Ding Y et al.
Journal of Dental Research, 2009
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
Hart PS et al.
Clinical Genetics, 2009
Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
Wright JT et al.
Journal of Dental Research, 2009
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.
Lee SK et al.
Human Mutation, 2008
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Kim JW et al.
American Journal of Human Genetics, 2008