Associated Papers
AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
Wang SK et al.
International Journal of Molecular Sciences, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z et al.
Bmc Oral Health, 2023
Molecular-based phenotype variations in amelogenesis imperfecta.
Dong J et al.
Oral Diseases, 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
A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.
Duan X et al.
Journal of Dental Research, 2019
Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.
Farrow E et al.
Orthodontics & Craniofacial Research, 2019
AMELX Gene Association with Dental Caries in Iranian Adults.
Koohpeima F et al.
International Journal of Molecular and Cellular Medicine, 2019
A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.
Urzúa B et al.
Acta Odontologica Scandinavica, 2012
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
A novel mutation in the AMELX gene and multiple crown resorptions.
Lee KE et al.
European Journal of Oral Sciences, 2011
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
Urzúa B et al.
Biochemical Genetics, 2011
Validation of amelogenesis imperfecta inferred from amelogenin evolution.
Delgado S et al.
Journal of Dental Research, 2007
A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.
Kida M et al.
Journal of Dental Research, 2007
The molecular etiologies and associated phenotypes of amelogenesis imperfecta.
Wright JT
American Journal of Medical Genetics. Part A, 2006
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.
Kim JW et al.
European Journal of Oral Sciences, 2006
Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta.
Gu X et al.
Acta Odontologica Scandinavica, 2006
Genes and related proteins involved in amelogenesis imperfecta.
Stephanopoulos G et al.
Journal of Dental Research, 2005
[Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta].
Urzúa O B et al.
Revista Medica De Chile, 2005
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
Kim JW et al.
Journal of Dental Research, 2004
[Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión].
Tremillo-Maldonado O et al.
Gaceta Medica De Mexico, 0