Results 101 to 110 of about 12,368 (291)

Phenotypic characterization of amelogenesis imperfecta-nephrocalcinosis syndrome: a review

Duazary, 2019
Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect.
Victor Simancas-Escorcia, Ariane Berdal, Antonio Díaz-Caballero   +2 more
doaj   +1 more source

Kohlschütter-Tönz Syndrome: report of an additional case [PDF]

, 2013
Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth ...
Almeida, Oslei Paes de, Carlos Bregni, Román, Contreras, Elisa, González Arriaga, Wilfredo Alejandro, Lopes, Márcio Ajudarte   +4 more
core   +1 more source

AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout‐NLS‐lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue‐specificity

Molecular Genetics & Genomic Medicine, 2019
Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel‐specific with respect to its essential functions.
Tian Liang, Yuanyuan Hu, Charles E. Smith, A. S. Richardson, Hong Zhang, Jie Yang, Brent Lin, Shih-Kai Wang, Jung‐Wook Kim, Y. Chun, J. Simmer, J. Hu   +11 more
semanticscholar   +1 more source

Amelogenesis Imperfecta with Taurodontism, Microdontia, and Minor Thalassemia: A Case Report [PDF]

Journal of Dental Materials and Techniques, 2013
Amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. Although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be ...
Fatemeh Mazhari, Negar Mokhtari Amirmajdi   +1 more
doaj   +2 more sources

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta [PDF]

, 2017
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding Acid Phosphatase, Testicular, which segregate with hypoplastic Amelogenesis imperfecta (AI) in two unrelated families.
Alan J Mighell, B Backman, CE Smith, CEL Smith, Chris F Inglehearn, Claire EL Smith, DA Parry, F Seymen, Francesca Soldani, GA Van der Auwera, H Choi, H Fleisig, H Li, James A Poulter, Jennifer Kirkham, Laura LE Whitehouse, M Goldberg, NA Romas, Peter F Day, ST Sherry, Steven J Brookes   +20 more
core   +1 more source

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

Journal of dentistry research, 2019
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome.
Claire E. L. Smith, Claire E. L. Smith, J. Poulter, S. Brookes, G. Murillo, Sandra Silva, C. Brown, A. Patel, H. Hussain, J. Kirkham, C. Inglehearn, A. Mighell   +11 more
semanticscholar   +1 more source

Effect of autoclave sterilization on nickel ion release from stainless steel crowns and space maintainer bands

European Journal of Oral Sciences, Volume 133, Issue 3, June 2025.
Abstract This study aimed to investigate the effect of autoclave sterilization on the leaching of nickel ions from stainless steel crowns and space maintainer bands used in pediatric dentistry. Sixty space maintainer bands and 60 stainless steel crowns were divided into sterilized (Amsco Century V‐120 Prevac steam sterilizer) and non‐sterilized groups.
Noura Alessa, Habah Alhamdan, Shahad Alrobaish, Nisrin AlQahtani, Norah Alarifi, Manal Almutairi, Latifa Alhowaish, Majedah Al‐Homaidhi, Reuof Alessa   +8 more
wiley   +1 more source

Enamel renal syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
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

Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report

Head & Face Medicine, 2020
Background Amelogenesis imperfecta is a hereditary malformation showing various manifestations regarding enamel dysplasia. This case report shows a 9-year follow-up after restorative treatment of a 16-year old female patient affected by a hypoplastic ...
M. Sabandal, T. Dammaschke, E. Schäfer
semanticscholar   +1 more source

Human tissue oxygen and strontium isotope values in North America: A data compilation and assessment for forensic geolocation

Journal of Forensic Sciences, Volume 70, Issue 3, Page 905-920, May 2025.
Abstract The use of isotopic analysis for human mobility, geolocation, and forensic identification has become common over the past two decades, yet its effectiveness depends on the availability of well‐documented reference data. Many reference data exist in the literature, but the suitability of these data for forensic applications has not been ...
Kirsten A. Verostick, Alejandro Serna, Chris Stantis, Gabriel J. Bowen   +3 more
wiley   +1 more source