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Case Report Of Dentinogenesis Imperfecta
International Dental JournalIntroduction: Dentinogenesis imperfecta is an autosomal-dominant genetic disorder characterized by marked aberrations in dentin mineralization and disorganized dentin architecture. This condition typically manifests across successive generations within a
Xu Laijun
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Dentinogenesis Imperfekta : Aspek Genetika Molekular, Klasifikasi dan Upaya Penanggulangannya
Journal of Dentistry Indonesia, 2015 Dentinogenesis Imperfecta (DI) is a hereditary simple autosomal dominant disorder showing abnormalities in the dentin of developing teeth and occuring at a rate of about 1 in 8000 births affecting both primary and secondary dentitions.
Elza Ibrahim Auerkari +2 more
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Genes and Diseases, 2019 Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes.
Thunyaporn Budsamongkol +5 more
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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 +8 more
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Mutations in
BMC Medical Genetics, 2011 Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K +3 more
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Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.ABSTRACT Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2.
Dominyka Batkovskyte +10 more
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Brittle teeth with brittle bone in a family for four generations: Case report and literature review
Contemporary Clinical Dentistry, 2012 Dentinogenesis imperfect (DI) is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth.
P S Shilpa +4 more
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Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V
Case Reports in Orthopedics, 2014 Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the ...
Ali Al Kaissi +3 more
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Oral Health‐Related Quality of Life in Dutch Adults With Osteogenesis Imperfecta
Oral Diseases, Volume 31, Issue 3, Page 983-992, March 2025.ABSTRACT Objective To explore the oral health‐related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using the Oral Health Impact Profile (OHIP)‐49 questionnaire. Secondary objectives were to investigate the impact of self‐reported Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental ...
Emmanuelle de Kuijper‐Timmermans +8 more
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Dentinogénesis imperfecta tipo II: Reporte de un caso
Revista de Odontopediatria Latinoamericana, 2013 La Dentinogénesis Imperfecta es un desorden genético de carácter hereditario autosómico dominante, que se caracteriza por defectos en la dentina de ambas denticiones.
Magdalena-San Martín +3 more
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