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   Articles with "amelogenesis imperfecta" as a keyword



Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

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recommendations! Published in 2019 at "Human Genetics"

DOI: 10.1007/s00439-019-01997-8

Abstract: Amelogenesis imperfecta (AI) refers to a genetically and clinically heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Both non-syndromic and syndromic forms of AI have been described and several… read more here.

Keywords: canine models; amelogenesis imperfecta; enam; novel recessive ... See more keywords

Crown therapy in young individuals with amelogenesis imperfecta: Long term follow-up of a randomized controlled trial.

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recommendations! Published in 2018 at "Journal of dentistry"

DOI: 10.1016/j.jdent.2018.06.020

Abstract: OBJECTIVES Amelogenesis imperfecta (AI) is a rare, genetically determined defect in enamel mineralization. Several problems are associated with AI: hypersensitivity, wear, restorations requiring replacement, gingivitis, aesthetic problems, and social avoidance. We conducted a randomized controlled… read more here.

Keywords: randomized controlled; crown therapy; amelogenesis imperfecta; controlled trial ... See more keywords

NOVEL DLX3 VARIANTS IN AMELOGENESIS IMPERFECTA WITH ATTENUATED TRICHO-DENTO-OSSEOUS SYNDROME

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recommendations! Published in 2021 at "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"

DOI: 10.1016/j.oooo.2021.03.184

Abstract: Background Variants in DLX3 cause tricho-dento-osseous syndrome (TDO; MIM accession no. 190320), a systemic condition with hair, nail, and bony changes, taurodontism, and amelogenesis imperfecta (AI) inherited in an autosomal dominant fashion. Different variants found… read more here.

Keywords: dento osseous; tricho dento; dlx3; dlx3 variants ... See more keywords

Orthodontic bonding in special circumstances

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recommendations! Published in 2024 at "British Dental Journal"

DOI: 10.1038/s41415-024-7791-z

Abstract: This clinical paper provides an in-depth exploration of advanced techniques for bonding orthodontic attachments under special circumstances. Challenges arise when bonding brackets to non-enamel surfaces, such as dental restorations, and in conditions such as amelogenesis… read more here.

Keywords: amelogenesis imperfecta; special circumstances; risk; existing dental ... See more keywords

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

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recommendations! Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13721

Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT, encoding an orphan receptor… read more here.

Keywords: new missense; variant; amelogenesis imperfecta; variants relt ... See more keywords

Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta.

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recommendations! Published in 2018 at "Oral diseases"

DOI: 10.1111/odi.12724

Abstract: OBJECTIVE To explore the mineral features of dentin and cementum in hypoplastic Amelogenesis imperfecta AI teeth. MATERIALS AND METHODS Forty-four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by… read more here.

Keywords: features connective; amelogenesis imperfecta; spectroscopy; hypoplastic amelogenesis ... See more keywords

Phenotypic Variability in LAMA3-Associated Amelogenesis Imperfecta.

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recommendations! Published in 2022 at "Oral diseases"

DOI: 10.1111/odi.14425

Abstract: OBJECTIVE Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized… read more here.

Keywords: lama3 mutations; amelogenesis imperfecta; enamel; enamel defects ... See more keywords

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

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recommendations! Published in 2025 at "Oral Diseases"

DOI: 10.1111/odi.15250

Abstract: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in… read more here.

Keywords: epidermolysis bullosa; junctional epidermolysis; amelogenesis imperfecta; crown resorption ... See more keywords
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FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta

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recommendations! Published in 2020 at "Journal of Dental Research"

DOI: 10.1177/0022034520962731

Abstract: Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness of dental enamel. While the condition is nonsyndromic, it can be associated with other craniofacial… read more here.

Keywords: fam83h; dominant hypocalcified; hypocalcified amelogenesis; amelogenesis imperfecta ... See more keywords

Autophagy Plays a Crucial Role in Ameloblast Differentiation.

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recommendations! Published in 2023 at "Journal of dental research"

DOI: 10.1177/00220345231169220

Abstract: Tooth enamel is generated by ameloblasts. Any failure in amelogenesis results in defects in the enamel, a condition known as amelogenesis imperfecta. Here, we report that mice with deficient autophagy in epithelial-derived tissues (K14-Cre;Atg7F/F and… read more here.

Keywords: amelogenesis imperfecta; amelogenesis; ameloblast differentiation; autophagy ... See more keywords

Dental age estimation in children and adolescents with amelogenesis imperfecta

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recommendations! Published in 2025 at "BMC Oral Health"

DOI: 10.1186/s12903-025-06797-3

Abstract: Considering the difficulties presented by changed tooth growth patterns in amelogenesis imperfecta (AI), which might influence clinical decisions and treatment planning, the purpose of this study is to assess the accuracy of dental age assessment… read more here.

Keywords: age; amelogenesis imperfecta; dental age; london atlas ... See more keywords