Results 71 to 80 of about 27,998 (224)

Assessing Access to Orthopaedic Care for Patients With Osteogenesis Imperfecta

Graduate Medical Education Research Journal
Background: Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth.
Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace   +6 more
doaj   +1 more source

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients [PDF]

, 2017
Background Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains.
Koks, Sulev, Maasalu, Katre, Martson, Aare, Prans, Ele, Reimann, Ene, Zhytnik, Lidiia   +5 more
core   +2 more sources

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

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

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta [PDF]

, 2009
Background The monogenic disease osteogenesis imperfecta (OI) is due to single mutations in either of the collagen genes ColA1 or ColA2, but within the same family a given mutation is accompanied by a wide range of disease severity.
Peter Brooks, Charles Marcaillou, Maud Vanpeene, Jean-Paul Saraiva, Daniel Stockholm, Stephan Francke, Reyna Favis, Nadine Cohen, Francis Rousseau, Frédéric Tores, Pierre Lindenbaum, Jörg Hager, Anne Philippi, D Botstein, SF Nelson, RG Cotton, RD Mashal, R Youil, BJ Till, CA Oleykowski, A Lishanski, DH Geschwind, R Wagner, J Smith, MP Doutriaux, M Faham, NJ Casna, AI Sanda, L McAllister, VG Cheung, VG Cheung, F Mirzayans, ES Lander, L Kruglyak, D Smirnov, PH Byers, B Sykes, PH Byers, C Falk, A Nicholls, B Sykes, D McBride, R Wieder, DE Kohne, KW Broman, C Dib, S Solinas-Toldo, D Pinkel, S Acharya, P Brooks, L Galio, RR Brinkman, SE Antonarakis, A Thomas, A Kong, JC Marini, L Li, KH Lau, DJ McBride, SM Carleton, D Altshuler, NJ Risch, P Donnelly, D Curtis, DV Zaykin, G Leibon, J Shendure, DR Bentley, A Philippi, J Cairns, M Beld, SL Smalley, RA Fisher, C Cannings, A Thomas, KP Donnelly, E Lander, S Jouquand, DG Ginzinger   +78 more
core   +1 more source

Studies of chain substitution caused sub-fibril level differences in stiffness and ultrastructure of wildtype and oim/oim collagen fibers using multifrequency-AFM and molecular modeling [PDF]

, 2018
Molecular alteration in type I collagen, i.e., substituting the α2 chain with α1 chain in tropocollagen molecule, can cause osteogenesis imperfecta (OI), a brittle bone disease, which can be represented by a mouse model (oim/oim).
Buehler, Markus J, Chang, Shu-Wei, Dao, Ming, Li, Tao, Rodriguez-Florez, Naiara, Shefelbine, Sandra, Zeng, Kaiyang   +6 more
core   +4 more sources

Osteogenesis imperfecta and pregnancy: a case report

Journal of Medical Case Reports, 2019
Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus.
Felix Chamunyonga, Kudzaishe Lloyd Masendeke, Bismark Mateveke   +2 more
doaj   +1 more source

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Педиатрическая фармакология, 2019
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes.
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov   +5 more
doaj   +1 more source

Pathological mandibular fracture after simple molar extraction in a patient with osteogenesis imperfecta treated with alendronate [PDF]

, 2010
Osteogenesis imperfecta (OI), is a heterogeneous group of inherited disorders of connective tissue characterized by bone fragility. Patients with this disease frequently suffer fractures, over 80% of the extremities due to the more intensive mechanical
Costilla García, Serafín, Gallego, Lorena, Junquera Gutiérrez, Luis Manuel, Pelaz, A.   +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