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Quoted phrase not found in phrase index: "Osteogenesis imperfecta type 9"
Page 1
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D. Dwan K, et al. Cochrane Database Syst Rev. 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. Cochrane Database Syst Rev. 2016. PMID: 27760454 Free PMC article. Review.
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix which typically results in multiple fractures with little or no trauma. Bisphosphonates are used in an attempt to increase bone mineral dens …
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix …
Deciphering the Relevance of Bone ECM Signaling.
Alcorta-Sevillano N, Macías I, Infante A, Rodríguez CI. Alcorta-Sevillano N, et al. Cells. 2020 Dec 7;9(12):2630. doi: 10.3390/cells9122630. Cells. 2020. PMID: 33297501 Free PMC article. Review.
Bone mineral density, a bone matrix parameter frequently used to predict fracture risk, is not the only one to affect bone fragility. ...The main inorganic components of the ECM are calcium-deficient apatite and trace elements, while the organic ECM consists of collagen …
Bone mineral density, a bone matrix parameter frequently used to predict fracture risk, is not the only one to affect bone fragility. …
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. ...A total of 416 patients with OI experienced a total of 1,566 fractures during the o …
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 …
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium. Retrouvey JM, et al. Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26. Eur J Med Genet. 2019. PMID: 30593885 Free PMC article.
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. ...None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom pan …
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mu …
Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations.
Nutchoey O, Intarak N, Theerapanon T, Thaweesapphithak S, Boonprakong L, Srijunbarl A, Porntaveetus T, Shotelersuk V. Nutchoey O, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Jun;131(6):694-701. doi: 10.1016/j.oooo.2021.01.003. Epub 2021 Jan 9. Oral Surg Oral Med Oral Pathol Oral Radiol. 2021. PMID: 33737018
OBJECTIVE: Dentinogenesis imperfecta (DI) requires dental treatment. This study investigated the characteristics of DI teeth associated with osteogenesis imperfecta (OI) and COL1A2 mutations. ...Numerous ectopic calcified masses, sparse and obstructed dentina …
OBJECTIVE: Dentinogenesis imperfecta (DI) requires dental treatment. This study investigated the characteristics of DI teeth associat …
COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E, Knight DRT, Thoreson EK, Baudhuin LM. Venable E, et al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):147-159. doi: 10.1002/ajmg.c.32038. Epub 2023 Mar 9. Am J Med Genet C Semin Med Genet. 2023. PMID: 36896471
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). ...Vascular/arterial fragility was observed in 4/15 indivi …
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS …
Gait Deviations in Children With Osteogenesis Imperfecta Type I.
Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G. Garman CR, et al. J Pediatr Orthop. 2019 Sep;39(8):e641-e646. doi: 10.1097/BPO.0000000000001062. J Pediatr Orthop. 2019. PMID: 31393309
BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complications that impact normal gait. ...METHODS: Gait analysis was performed on 44 subjects with type I (11.73.08 y old) and 30 typically …
BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complic …
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D. Dwan K, et al. Cochrane Database Syst Rev. 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. Cochrane Database Syst Rev. 2014. PMID: 25054949 Updated. Review.
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix which typically results in multiple fractures with little or no trauma. Bisphosphonates are used in an attempt to increase bone mineral dens …
BACKGROUND: Osteogenesis imperfecta is caused by a genetic defect resulting in an abnormal type I collagen bone matrix …
Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta.
Keuning MC, Leeuwerke SJG, van Dijk PR, Harsevoort AGJ, Grotjohan HP, Franken AAM, Janus GJM. Keuning MC, et al. Eur Spine J. 2022 Sep;31(9):2295-2300. doi: 10.1007/s00586-022-07260-5. Epub 2022 May 23. Eur Spine J. 2022. PMID: 35604455
PURPOSE: Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. ...Forty-two patients with type III OI were included. Anterior-posterior spine radiographs were evaluated for scoliosis. ...
PURPOSE: Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis de …
125 results