Associated Papers
Intra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.
Lanza CRM et al.
Journal of Applied Oral Science : Revista Fob, 2025
A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.
Yu S et al.
Oral Diseases, 2022
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
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1
ENAM mutations and digenic inheritance.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2019
31478359 (PubMed )
Supplement: MGG3-7-e00928-s001.pdf
Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
Koruyucu M et al.
Journal of Dental Research, 2018
29554435 (PubMed )
Supplement: ds_10.1177_0022034518763152.pdf
ENAM mutations with incomplete penetrance.
Seymen F et al.
Journal of Dental Research, 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
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.
Pavlic A et al.
Archives of Oral Biology, 2007
Phenotype of ENAM mutations is dosage-dependent.
Ozdemir D et al.
Journal of Dental Research, 2005
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Hart TC et al.
Journal of Medical Genetics, 2003
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.
Hart PS et al.
Archives of Oral Biology, 2003
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