Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta.
Lee Y et al.
Journal of Personalized Medicine, 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
Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
Modi BP et al.
Bmc Medical Genetics, 2018
Adaptive Evolution Favoring KLK4 Downregulation in East Asians.
Marques PI et al.
Molecular Biology and Evolution, 2016
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
Genetic polymorphisms in the human tissue kallikrein (KLK) locus and their implication in various malignant and non-malignant diseases.
Batra J et al.
Biological Chemistry, 2012
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Wright JT et al.
Cells, Tissues, Organs, 2011
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
Genes and related proteins involved in amelogenesis imperfecta.
Stephanopoulos G et al.
Journal of Dental Research, 2005
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.
Ozdemir D et al.
Journal of Dental Research, 2005
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.
Hart PS et al.
Journal of Medical Genetics, 2004