Results 61 to 70 of about 17,499 (218)

Dental management in osteogenesis imperfecta

, 2017
Osteogenesis imperfecta je vrlo rijetka heterogena genetička bolest udružena s razvojem vezivnog tkiva, što rezultira krhkim kostima i čestim prijelomima.
Ivana Savić Pavičin, Brkić, Hrvoje, Savić Pavičin, Ivana, Hrvoje Brkić   +3 more
core   +1 more source

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Orphanet Journal of Rare Diseases
Background SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing,
L. Sangiorgi, M. Boarini, M. Mordenti, V. Wang, I. Westerheim, R. T. Skarberg, M. Cavaller-Bellaubi, James Clancy, R. Pinedo-Villanueva, E. J. V. Lente, M. Marchetti   +10 more
doaj   +1 more source

Students with Osteogenesis Imperfecta: A Comparative Intergenerational Study of Inclusive Participation in New Zealand schools.

, 2007
Osteogenesis imperfecta (OI) is a genetic condition commonly known as Brittle Bones. The purpose of this study was to listen to and document the experiences of those with OI to investigate if there were barriers to inclusive education for students with ...
Holmes, Heather Jeanette
core  

Costovertebral anomalies in osteogenesis imperfecta

, 1985
Study of 16 patients with Type III osteogenesis imperfecta showed marked elongation of the pedicles of the vertebrae in all cases, a deformity which was not seen in other types of the disease. Posterior rib angulation was also noted in Type III disease.
K Katz, A Solomon, GA Versfeld, PH Beighton   +3 more
core   +1 more source

Osteogenesis Imperfecta

, 2021
Osteogenesis Imperfecta is an inherited disease that has varying stages of severity. The effects of this disease results in a person\u27s bones becoming brittle and weak to where it can easily fracture or completely break.
Kim, Dustin
core   +2 more sources

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human Genome Variation
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear.
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue   +8 more
doaj   +1 more source

Malleostapedotomy in Patients With Stapes Fixation: A Systematic Review

The Laryngoscope, Volume 136, Issue 4, Page 1601-1613, April 2026.
This systematic review analyses the current evidence on malleostapedotomy as a primary or revision procedure in patients with stapes fixation. Twenty‐five studies comprising 632 operated ears were included. Malleostapedotomy proved to be a safe and effective alternative to incus‐anchoring stapedoplasty, with favorable hearing outcomes and a low ...
Matteo Alicandri‐Ciufelli, Edoardo D'Alessandro, Daniela Lucidi, Riccardo Nocini, Hui Davide Qiu   +4 more
wiley   +1 more source

New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Педиатрическая фармакология, 2015
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms.
G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margieva   +2 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

An unusual presentation of osteogenesis imperfecta type I

, 2011
Marta Rebelo, Jandira Lima, José Diniz Vieira, José Nascimento CostaDepartment of Internal Medicine, University Hospital of Coimbra, Coimbra, PortugalAbstract: Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad ...
Lima J, Rebelo M, Vieira JD, Costa JN
core