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Quoted phrase not found in phrase index: "Osteogenesis imperfecta, type 20"
Page 1
Osteogenesis Imperfecta: Current and Prospective Therapies.
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL. Botor M, et al. Biomolecules. 2021 Oct 10;11(10):1493. doi: 10.3390/biom11101493. Biomolecules. 2021. PMID: 34680126 Free PMC article. Review.
Osteogenesis Imperfecta (OI) is a group of connective tissue disorders with a broad range of phenotypes characterized primarily by bone fragility. The prevalence of OI ranges from about 1:15,000 to 1:20,000 births. Five types of the disease are commonly disti …
Osteogenesis Imperfecta (OI) is a group of connective tissue disorders with a broad range of phenotypes characterized primaril …
Osteogenesis imperfecta in children.
Arshad F, Bishop N. Arshad F, et al. Bone. 2021 Jul;148:115914. doi: 10.1016/j.bone.2021.115914. Epub 2021 Mar 17. Bone. 2021. PMID: 33722772
Osteogenesis imperfecta (OI) is a disease characterised by altered bone tissue material properties together with abnormal micro and macro-architecture and thus bone fragility, increased bone turnover and hyperosteocytosis. ...The alternatives that might affect tissu …
Osteogenesis imperfecta (OI) is a disease characterised by altered bone tissue material properties together with abnormal micr …
The evolution of the nosology of osteogenesis imperfecta.
Chetty M, Roomaney IA, Beighton P. Chetty M, et al. Clin Genet. 2021 Jan;99(1):42-52. doi: 10.1111/cge.13846. Epub 2020 Nov 3. Clin Genet. 2021. PMID: 32901963 Review.
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. ...In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pat …
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 00 …
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L. Folkestad L. Dan Med J. 2018 Apr;65(4):B5454. Dan Med J. 2018. PMID: 29619932 Free article. Review.
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. ...The study included 39 patients with OI type I, and 39 healthy age and gender ma …
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are invol …
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM. Harsevoort AGJ, et al. BMC Musculoskelet Disord. 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. BMC Musculoskelet Disord. 2020. PMID: 31900144 Free PMC article.
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. ...The aim of this study is to investigate whether ad …
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis …
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P, Zhou Y, Tan Z, Lin Y, Lin DL, Wu J, Li Z, Shek HT, Wu J, Hu Y, Zhu F, Chan D, Cheung KM, To MK. Chen P, et al. Orphanet J Rare Dis. 2023 Sep 20;18(1):295. doi: 10.1186/s13023-023-02906-z. Orphanet J Rare Dis. 2023. PMID: 37730650 Free PMC article.
BACKGROUND: Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known. ...CONCLUSION: The severity and progression of scoliosis in osteogenesis impe …
BACKGROUND: Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, f …
Bladder and bowel symptoms experienced by children with osteogenesis imperfecta.
Martins G, Siedlikowski M, Coelho AKS, Rauch F, Tsimicalis A. Martins G, et al. J Pediatr (Rio J). 2020 Jul-Aug;96(4):472-478. doi: 10.1016/j.jped.2018.12.008. Epub 2019 Feb 22. J Pediatr (Rio J). 2020. PMID: 30802423 Free PMC article.
OBJECTIVE: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children. ...Among the child pa …
OBJECTIVE: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children wi …
Osteoarthritis in osteogenesis imperfecta: A nationwide register-based cohort study.
Andersen JD, Folkestad L, Hald JD, Harsløf T, Langdahl BL, Abrahamsen B. Andersen JD, et al. Bone. 2022 Jan;154:116222. doi: 10.1016/j.bone.2021.116222. Epub 2021 Sep 28. Bone. 2022. PMID: 34597857
BACKGROUND: Osteogenesis Imperfecta (OI) is a genetic disease characterized by skeletal fragility. ...CONCLUSION: Patients with OI have a higher risk of OA than the reference population. MINIABSTRACT: Osteogenesis Imperfecta (OI) is a hereditary connec …
BACKGROUND: Osteogenesis Imperfecta (OI) is a genetic disease characterized by skeletal fragility. ...CONCLUSION: Patients wit …
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T. Takeda R, et al. Am J Med Genet A. 2022 Sep;188(9):2560-2575. doi: 10.1002/ajmg.a.62887. Epub 2022 Jul 13. Am J Med Genet A. 2022. PMID: 35822426 Free PMC article.
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). ... …
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including …
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).
Majeed NK, Oramas D, Lindgren V, Garzon S, Wiley DE, Enakpene C, Emmadi R. Majeed NK, et al. Fetal Pediatr Pathol. 2019 Jun;38(3):263-271. doi: 10.1080/15513815.2019.1579877. Epub 2019 Apr 3. Fetal Pediatr Pathol. 2019. PMID: 30942118
BACKGROUND: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. ...A postmortem skeletal survey revea …
BACKGROUND: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractu …
109 results