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Quoted phrase not found in phrase index: "Osteogenesis imperfecta, type 20"
Page 1
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
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 …
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 …
Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study.
Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC. Taqi D, et al. Bone. 2021 Jun;147:115917. doi: 10.1016/j.bone.2021.115917. Epub 2021 Mar 16. Bone. 2021. PMID: 33741542 Free PMC article.
INTRODUCTION: Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dental pulp space), and taurodontism (enlarged dental pulp space) vary between and within patients. ...CONCLUSION: The dental phenotype evaluati …
INTRODUCTION: Dental anomalies in Osteogenesis imperfecta (OI), such as tooth discoloration, pulp obliteration (calcified dent …
Standardized growth charts for children with osteogenesis imperfecta.
Robinson ME, Rauch D, Glorieux FH, Rauch F. Robinson ME, et al. Pediatr Res. 2023 Sep;94(3):1075-1082. doi: 10.1038/s41390-023-02550-0. Epub 2023 Mar 15. Pediatr Res. 2023. PMID: 36922619
BACKGROUND: Osteogenesis imperfecta (OI) is associated with short stature, which is mild, severe and moderate in OI types I, III and IV, respectively. ...IMPACT: Standardized osteogenesis imperfecta (OI) type- and sex-specific growth charts acro …
BACKGROUND: Osteogenesis imperfecta (OI) is associated with short stature, which is mild, severe and moderate in OI types I, I …
Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years.
Liang X, Chen P, Chen C, Che W, Yang Y, Tan Z, Li H, Zhou Y, Yin S, To MK, Niu Q. Liang X, et al. Paediatr Anaesth. 2022 Jul;32(7):851-861. doi: 10.1111/pan.14454. Epub 2022 May 1. Paediatr Anaesth. 2022. PMID: 35384138
BACKGROUND: Major anesthetic risks arise in orthopedic surgeries for children with osteogenesis imperfecta, a rare genetically inherited condition presenting diverse skeletal issues. ...METHODS: Both descriptive and inferential statistics were employed to study the …
BACKGROUND: Major anesthetic risks arise in orthopedic surgeries for children with osteogenesis imperfecta, a rare genetically …
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.
Mei Y, Jiang Y, Shen L, Meng Z, Zhang Z, Zhang H. Mei Y, et al. Orphanet J Rare Dis. 2024 Mar 12;19(1):116. doi: 10.1186/s13023-024-03089-x. Orphanet J Rare Dis. 2024. PMID: 38475860 Free PMC article.
BACKGROUND: Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the characteristics, prevalence and correlation of ec …
BACKGROUND: Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients wi …
Cesarean delivery and colon resection in a patient with type III osteogenesis imperfecta.
Fiegel MJ. Fiegel MJ. Semin Cardiothorac Vasc Anesth. 2011 Sep;15(3):98-101. doi: 10.1177/1089253211412978. Epub 2011 Aug 2. Semin Cardiothorac Vasc Anesth. 2011. PMID: 21813546
OBJECTIVE. Osteogenesis imperfecta is a connective tissue disorder that results from the inability to produce normal collagen. ...These numerous derangements can lead to a challenging perioperative course. CASE REPORT. This report describes a case of a 27-yea …
OBJECTIVE. Osteogenesis imperfecta is a connective tissue disorder that results from the inability to produce normal collagen. …
Ankle strength and functional limitations in children and adolescents with type I osteogenesis imperfecta.
Caudill A, Flanagan A, Hassani S, Graf A, Bajorunaite R, Harris G, Smith P. Caudill A, et al. Pediatr Phys Ther. 2010 Fall;22(3):288-95. doi: 10.1097/PEP.0b013e3181ea8b8d. Pediatr Phys Ther. 2010. PMID: 20699778
PURPOSE: To determine whether children with type I osteogenesis imperfecta (OI) exhibit ankle plantar flexor weakness and whether this correlates with physical function. METHODS: Twenty children and adolescents with type I OI and 20 age-matched control …
PURPOSE: To determine whether children with type I osteogenesis imperfecta (OI) exhibit ankle plantar flexor weakness a …
Health outcomes of neonates with osteogenesis imperfecta: a cross-sectional study.
Yimgang DP, Brizola E, Shapiro JR. Yimgang DP, et al. J Matern Fetal Neonatal Med. 2016 Dec;29(23):3889-93. doi: 10.3109/14767058.2016.1151870. Epub 2016 Mar 7. J Matern Fetal Neonatal Med. 2016. PMID: 26857929
OBJECTIVE: To assess at-birth health outcomes of neonates with osteogenesis imperfecta (OI). STUDY DESIGN: A total of 53 women who self-reported having had at least one child with OI completed the survey. We evaluated pregnancy length, neonatal intensive care unit ( …
OBJECTIVE: To assess at-birth health outcomes of neonates with osteogenesis imperfecta (OI). STUDY DESIGN: A total of 53 women …
49 results