Associated Papers
Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.
Wang SK et al.
Journal of Dental Sciences, 2026
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: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Nikolopoulos G et al.
Human Mutation, 2021
Dental malformations associated with biallelic MMP20 mutations.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2020
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C et al.
Cancers, 2019
31366136 (PubMed )
Supplement: cancers-11-01081-s001.pdf
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.
Kim YJ et al.
Frontiers in Physiology, 2017
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Gasse B et al.
Frontiers in Physiology, 2017
Bmp2 deletion causes an amelogenesis imperfecta phenotype via regulating enamel gene expression.
Guo F et al.
Journal of Cellular Physiology, 2015
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Gasse B et al.
Journal of Dental Research, 2013
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
MMP20 hemopexin domain mutation in amelogenesis imperfecta.
Lee SK et al.
Journal of Dental Research, 2010
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