Dentinogenesis Imperfecta
Mostrando 1-5 de 5 artigos, teses e dissertações.
-
1. Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center
Abstract Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, including the presence of blue sc
Genet. Mol. Biol.. Publicado em: 25/04/2019
-
2. Análise molecular e funcional dos genes formadores e reguladores do colágeno tipo I em pacientes com osteogênese imperfeita = : Molecular and functional analysis of regulatory and structure-related genes of type I collagen in patients with osteogenesis imperfecta / Molecular and functional analysis of regulatory and structure-related genes of type I collagen in patients with osteogenesis imperfecta
A Osteogênese Imperfeita (OI) é um distúrbio genético caracterizado por baixa massa e fragilidade óssea, e outras manifestações do tecido conjuntivo, decorrente de defeitos qualitativos ou quantitativos do colágeno tipo I. Está associada a mutações nos genes COL1A1 e COL1A2 que codificam respectivamente as cadeias pro alfa 1-(I) e pro alfa -2(I) f
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 31/08/2012
-
3. Heterogeneity of osteogenesis imperfecta type I.
We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorder
-
4. Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?
A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some
-
5. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.
We report a family in which dominant osteogenesis imperfecta segregates with a COL1A2 haplotype and is associated with a structural defect in the helical region of the type I procollagen molecule. All affected subjects had short stature, dentinogenesis imperfecta, and myopia; however, great differences were observed in the number of fractures and in the degr