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About 523 results

ALLMedicine™ Amelogenesis Imperfecta Center

Research & Reviews  200 results

Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypo...
https://doi.org/10.1136/bcr-2022-250514
BMJ Case Reports; Agrawal N, Awasthi A et. al.

Nov 10th, 2022 - Enamel renal syndrome (ERS) due to loss of function (LOF) mutation of FAM20A gene typically consists of hypoplastic amelogenesis imperfecta (AI) and bilateral nephrolithiasis/nephrocalcinosis. Recent evidence suggests that FAM20A interacts with FA...

Phenotypic Variability in LAMA3-Associated Amelogenesis Imperfecta.
https://doi.org/10.1111/odi.14425
Oral Diseases; Wang SK, Zhang H et. al.

Nov 4th, 2022 - 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 ...

Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the e...
https://doi.org/10.1007/s00784-022-04763-9
Clinical Oral Investigations; Xie Y, Meng M et. al.

Nov 2nd, 2022 - To investigate the variant of an amelogenesis imperfecta (AI) family and to explore the function of the FAM83H (family with sequence similarity 83 member H) in the enamel formation. We investigated a five-generation Chinese family diagnosed with A...

Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J ...
https://doi.org/10.1016/j.bone.2022.116595
Bone Zheng X, Huang W et. al.

Oct 23rd, 2022 - Truncation mutations in family with sequence similarity, member H (FAM83H) gene are considered the main cause of autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI); however, its pathogenic mechanism in amelogenesis remains poorly ch...

Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT05343247

Oct 14th, 2022 - One of the developmental enamel defects, amelogenesis imperfecta (AI), is also known as enamel hypoplasia/hypomineralization. It is a rare inherited disease that affects the enamel structure, amount and component in primary and permanent teeth, an...

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Clinicaltrials.gov  8 results

Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT05343247

Oct 14th, 2022 - One of the developmental enamel defects, amelogenesis imperfecta (AI), is also known as enamel hypoplasia/hypomineralization. It is a rare inherited disease that affects the enamel structure, amount and component in primary and permanent teeth, an...

Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects
https://clinicaltrials.gov/ct2/show/NCT04704089

May 10th, 2022 - Methodology: V1 inclusion visit (D1): The subjects will be screened during a consultation carried out as part of the treatment in the participating dentistry departments. The inclusion and non-inclusion criteria for participants will be verified a...

Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
https://clinicaltrials.gov/ct2/show/NCT03810859

Nov 22nd, 2021 - ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and...

Clinical Performance of Composites in Patients With Amelogenesis Imperfecta
https://clinicaltrials.gov/ct2/show/NCT04897724

May 21st, 2021 - In AI patients, adhesion still remains the first option in order to achieve an early, minimally invasive intervention, and the altered enamel still represents an acceptable substrate for bonding in some AI variants. Many cases have revealed that t...

Orodental Manifestations of Rare Diseases
https://clinicaltrials.gov/ct2/show/NCT02397824

Nov 13th, 2020 - OroDental anomalies are one of the phenotypical aspects of at least 900 rare diseases or syndromes affecting by definition less than 1 in 2000 individual within the population (almost 25 million persons in Europe). They are often described in asso...

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News  1 results

A Family With Malformed and Discolored Dentition
https://www.medscape.com/viewarticle/749907_2

Sep 26th, 2011 - Differential Diagnosis The presence of bulbous crowns and narrow roots, relatively normal density of any remaining enamel, and the obliteration of pulp chambers and root canals in the absence of marked attrition, are characteristic of dentinogenes...

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