Results 11 to 20 of about 15,266 (165)
Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4 [PDF]
La amelogénesis imperfecta (AI) es un trastorno hereditario que afecta la estructura y apariencia clínica del esmalte dental. Hasta la fecha, se han asociado las mutaciones de 18 genes como la etiología de la AI no sindrómica.
Nicolás Pescetto +3 more
doaj +6 more sources
A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. [PDF]
ABSTRACT Objectives Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM#130900) is a hereditary enamel defect caused by truncation mutations in FAM83H, though the underlying pathogenic mechanisms remain incompletely understood. This study aimed to identify novel FAM83H mutations in a Chinese family with ADHCAI and to investigate ...
Wang Y, Chen H, Lai J, Huang X, Huang Y.
europepmc +2 more sources
Amelogénesis imperfecta hipocalcificada tipo IIIB: a propósito de una familia afectada [PDF]
Este trabajo presenta tres casos de amelogénesis imperfecta hipocalcificada tipo IIIB en una misma familia, los cuales manifiestan una herencia autosómica ...
Galmés, C. +2 more
core +4 more sources
Amelogénesis imperfecta tipo IE. a propósito de una familia afectada [PDF]
En este artículo se revisa el concepto de Amelogénesis imperfecta a propósito de una familia afectada de Amelogénesis imperfecta tipo lE, según la clasificación de WITKOP.
Chimenos Küstner, Eduardo +3 more
core +4 more sources
Molar incisor hypomineralisation: current knowledge and practice
Background Molar incisor hypomineralisation (MIH) is a common developmental dental condition that presents in childhood. Areas of poorly formed enamel affect one or more first permanent molars and can cause opacities on the anterior teeth. MIH presents a variety of challenges for the dental team as well as functional and social impacts for affected ...
Helen D. Rodd +4 more
wiley +1 more source
Amelogenesis imperfecta and localised aggressive periodontitis: A rare clinical entity
This case report presents two female patients whose chief complaint was discoloration of teeth. On careful clinical examination it was found that the patients had features of amelogenesis imperfecta and localised aggressive periodontitis.
Gayatri Gundannavar +3 more
doaj +1 more source
Molecular Basis of Human Enamel Defects
During eruption of teeth in the oral cavity, the effect of gene variations and environmental factors can result in morphological and structural changes in teeth.
Chatzopoulos Georgios, Tziafas Dimitrios
doaj +1 more source
Enamel renal syndrome: A rare case report
Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky ...
S V Kala Vani, M Varsha, Y Uday Sankar
doaj +1 more source
Prosthodontic rehabilitation: Cutting edge treatment for amelogenesis imperfecta
Amelogenesis imperfecta is a genetically determined inherited disorder characterized by abnormal formation of tooth enamel leading to esthetic, functional, and psychological impact on the patient.
Saurav Banerjee, Debabrata Biswas
doaj +1 more source
Introduction: Tooth enamel is a precious and highly mineralized tissue in the human body. Amelogenesis Imperfecta (AI) is a developmental, evolutionary and hereditary disease presents with the rare abnormal formation of enamel that affects the primary ...
Shamsoulmolouk Najafi +4 more
doaj +1 more source

