Search Results - "osteogenesis imperfecta"

Nanoindentation measurement on interstitial and osteon of bone with osteogenesis imperfecta-type III by Azizan, Nurul Azira, Basarudin, Khairul Salleh, Mat Som, Mohd Hanafi, Khan, S.F., Sulaiman, A. Razak, Awang, Shukrimi

“…"Osteogenesis imperfecta (OI) is one of the genetic disorder which was characterized by bone fragility. …”
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Determination of fracture risk on patient-specific model of femur with osteogenesis imperfecta by Ahmad, Siti Fatima Zahra’, Mat Som, Mohd Hanafi, Basaruddin, Khairul Salleh, Daud, Ruslizam, Awang, Mohd Shukrimi

“…Osteogenesis Imperfecta (OI) is a group of genetic disorder that affects the bones. …”
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Biomechanical analysis of patient-specific femur model of osteogenesis imperfecta with cortical and cancellous bone by Tan, L. C., Mat Som, Mohd Hanafi, Basarudin, Khairul Salleh, Yazid, Haniza, Daud, Ruslizam, Awang, Mohamed Saufi

“…Osteogenesis imperfecta (OI) is a fragile bone disease characterized by easy fractures. …”
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta by Caparrós-Martín, Jose, Aglan, M., Temtamy, S., Otaify, G., Valencia, M., Nevado, J., Vallespin, E., Del Pozo, A., Prior de Castro, C., Calatrava-Ferreras, L., Gutierrez, P., Bueno, A., Sagastizabal, B., Guillen-Navarro, E., Ballesta-Martinez, M., Gonzalez, V., Basaran, S., Buyukoglan, R., Sarikepe, B., Espinoza-Valdez, C., Cammarata-Scalisi, F., Martinez-Glez, V., Heath, K., Lapunzina, P., Ruiz-Perez, V.

“…Background: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. …”
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Fracture risk prediction on children with osteogenesis imperfecta subjected to loads under activity of daily living by Wanna, S B C, Basaruddin, Khairul Salleh, Mat Som, Mohd Hanafi, Sulaiman, Abdul Razak, Awang, Mohd Shukrimi, Mohamad Khan, Shah Fenner Khan, Abdul Majid, Mohd Shukry, Mohd Jamir, Mohd Ridzuan

“…Children with Osteogenesis Imperfecta (OI) often vulnerable to fracture even on their daily basic tasks. …”
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Modelling of patient-specific femur with osteogenesis imperfecta to determine the fracture risk under various loads by Tan, L.C., Mat Som, Mohd Hanafi, Basaruddin, K.S., Yazid, H., Sulaiman, Abdul Razak, Awang, Mohd Shukrimi

“…Osteogenesis imperfecta (OI) is a fragile bone disease characterized by easy fractures. …”
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Finite element analysis of tibia with osteogenesis imperfecta: the influence of considering cancellous bone in model reconstruction by Tan, H.Y., basiron, Khairu Salleh, Mat Som, Mohd Hanafi, Mat Som, Hanafi, Khan, S.F., Sulaiman, Abdul Razak, Awang, Mohd Shukrimi

“…The paper aims to develop the finite element (FE) models of tibia with Osteogenesis Imperfecta (OI) based on a patient-specific computed tomography (CT)-images. …”
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Fracture prediction on patient-specific tibia model with osteogenesis Imperfecta under various loading direction by Mok, C J, Basaruddin, Khairul Salleh, Mat Som, Mohd Hanafi, A. Majid, M.S.A., Sulaiman, Abdul Razak, Awang, Mohd Shukrimi

“…This study aims to predict the fracture of bone with osteogenesis imperfecta (OI) by considering the homogenization properties of real patient. …”
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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations by Caparrós-Martín, Jose, Valencia, M., Pulido, V., Martínez-Glez, V., Rueda-Arenas, I., Amr, K., Farra, C., Lapunzina, P., Ruiz-Perez, V., Temtamy, S., Aglan, M.

“…Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. …”
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum by Puig-Hervás, M., Temtamy, S., Aglan, M., Valencia, M., Martínez-Glez, V., Ballesta-Martínez, M., López-González, V., Ashour, A., Amr, K., Pulido, V., Guillén-Navarro, E., Lapunzina, P., Caparrós-Martín, Jose, Ruiz-Perez, V.

“…PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. …”
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A rare heterozygous SP7 variant c.1019A>c (p.Glu340Ala) in a Malaysian family with Osteogenesis Imperfecta Type XII: a case report by Teh, Hui Wen, Lee, Yee Lin, Musa, Nurul Huda, Thilakavathy, Karuppiah

“…Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by increased bone fragility, low bone density, and frequent fractures. …”
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The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders by Brameld, Kate, Dye, Danielle, Maxwell, Susannah, Brisbane, Joanna, Glasson, Emma, Goldblatt, Jack, O'Leary, Peter

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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects by Valencia, M., Caparrós-Martín, Jose, Sirerol-Piquer, M., García-Verdugo, J., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A., Nikkels, P., Ruiz-Perez, V., Ostergaard, E.

“…Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. …”
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Mutations in WNT1 cause different forms of bone fragility by Keupp, K., Beleggia, F., Kayserili, H., Barnes, A., Steiner, M., Semler, O., Fischer, B., Yigit, G., Janda, C., Becker, J., Breer, S., Altunoglu, U., Grünhagen, J., Krawitz, P., Hecht, J., Schinke, T., Makareeva, E., Lausch, E., Cankaya, T., Caparrós-Martín, Jose, Lapunzina, P., Temtamy, S., Aglan, M., Zabel, B., Eysel, P., Koerber, F., Leikin, S., Garcia, K., Netzer, C., Schönau, E., Ruiz-Perez, V., Mundlos, S., Amling, M., Kornak, U., Marini, J., Wollnik, B.

“…We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. …”
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The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study by Dye, Danielle, Brameld, Kate, Maxwell, S., Goldblatt, J., Bower, C., Leonard, H., Bourke, J., Glasson, E.J., O'Leary, Peter

“…Specific disorders associated with a high demand on hospital services included cystic fibrosis, Down syndrome, osteogenesis imperfecta, thalassemia, and von Willebrand’s disease. …”
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Epidemiology and genetics of catastrophizing and pain in OA by Harvey, Hollie

“…LEPRE1 is further known as one of the genetic causes of Osteogenesis imperfecta type VIII another bone formation disorder. …”
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