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Quoted phrase not found in phrase index: "Osteogenesis imperfecta type 9"
Page 1
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 …
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.
Ballenger KL, Tugarinov N, Talvacchio SK, Knue MM, Dang Do AN, Ahlman MA, Reynolds JC, Yanovski JA, Marini JC. Ballenger KL, et al. J Clin Endocrinol Metab. 2022 Jan 1;107(1):67-76. doi: 10.1210/clinem/dgab679. J Clin Endocrinol Metab. 2022. PMID: 34519823 Free PMC article.
CONTEXT: Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). ...OBJECTIVE: This study compares adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associate …
CONTEXT: Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). ...OBJECTIVE: Th …
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 …
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L, Zhang H, Zhang ZL. Xi L, et al. J Bone Miner Metab. 2021 May;39(3):416-422. doi: 10.1007/s00774-020-01163-5. Epub 2020 Oct 17. J Bone Miner Metab. 2021. PMID: 33070251
INTRODUCTION: Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. ...Patients with OI types III and IV, especially type III, had a higher proportion of dentinogenesis i …
INTRODUCTION: Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal f …
Dentinogenesis imperfecta type II in Swedish children and adolescents.
Andersson K, Malmgren B, Åström E, Dahllöf G. Andersson K, et al. Orphanet J Rare Dis. 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. Orphanet J Rare Dis. 2018. PMID: 30134932 Free PMC article.
BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromi …
BACKGROUND: Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this diso …
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). ...A predominant OI phenotype and COL1A1 frameshift variants are …
Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS …
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.
Niu Z, Lai Y, Zhou W, Liu L, Tan S, He G, Li J, Tang F, Su Y, Xu Y, Liu L, Xie L, Fang Q, Tang A. Niu Z, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2019. doi: 10.1002/mgg3.2019. Epub 2022 Jul 19. Mol Genet Genomic Med. 2022. PMID: 35855543 Free PMC article.
BACKGROUND: Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. ...
BACKGROUND: Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone …
Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.
Hald JD, Folkestad L, Swan CZ, Wanscher J, Schmidt M, Gjørup H, Haubek D, Leonhard CH, Larsen DA, Hjortdal JØ, Harsløf T, Duno M, Lund AM, Jensen JB, Brixen K, Langdahl B. Hald JD, et al. Osteoporos Int. 2018 Dec;29(12):2781-2789. doi: 10.1007/s00198-018-4663-x. Epub 2018 Aug 24. Osteoporos Int. 2018. PMID: 30143849
Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. ...METHODS: The study population comprises 85 Danish OI patients (age 44.9 15.9 …
Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high conte …
Keratoconus tomographic indices in osteogenesis imperfecta.
Correia Barão R, Santos M, Marques RE, Quintas AM, Guerra P. Correia Barão R, et al. Graefes Arch Clin Exp Ophthalmol. 2023 Sep;261(9):2585-2592. doi: 10.1007/s00417-023-06059-4. Epub 2023 Apr 19. Graefes Arch Clin Exp Ophthalmol. 2023. PMID: 37074408 Free PMC article.

PURPOSE: Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. ...BAD-D value was significantly higher in OI patients (2.1 1.4 vs. 0.9 0.2; p < 0.0001). CONCLUSION: OI patients showed significant changes in corneal profi

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PURPOSE: Osteogenesis imperfecta (OI) is a rare inherited disease affecting collagen-rich tissues. ...BAD-D value was signific …
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 …
111 results