Results 31 to 40 of about 27,998 (224)

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype [PDF]

, 2011
Background: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases.
Swinnen, Freya, Coucke, Paul, De Paepe, Anne, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton JTM, Cremers, Cor WRJ, Dhooge, Ingeborg, De Leenheer, Els   +12 more
core   +3 more sources

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. [PDF]

, 2016
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone ...
Aubry-Rozier, B., Bonafé, L., Bregou Bourgeois, A., Laurent-Applegate, L., Pioletti, D.P., Zambelli, P.Y.   +5 more
core   +2 more sources

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis

BMC Musculoskeletal Disorders, 2022
Background Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking.
Sophie Barlow, Lucy Dove, Anju Jaggi, Richard Keen, Judith Bubbear   +4 more
doaj   +1 more source

Recent Developments in Osteogenesis Imperfecta [PDF]

, 2015
Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some ...
Albert, Carolyne, Fritz, Jessica M., Harris, Gerald F., Shaker, Joseph L.   +3 more
core   +2 more sources

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Orphanet Journal of Rare Diseases
Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported.
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken   +5 more
doaj   +1 more source

Infraclavicular block and anesthesia management in two cases with Osteogenesis Imperfecta

Van Tıp Dergisi, 2017
Osteogenesis imperfecta, is a rare autosomal hereditary connective tissue disease. In these cases, extremely fragile bones, other organ and body system disorders are prominent.
Cahide Kahraman, Abdullah Kahraman
doaj   +1 more source

Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG) [PDF]

, 2017
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation.
Celli, L, Celli, M., D'Alfonso, Y, D'Eufemia, P, Febbo, A, Persiani, P, Turchetti, A., Zambrano, A   +7 more
core   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source