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Quoted phrase not found in phrase index: "Osteogenesis imperfecta type 13"
Page 1
Eat, breathe, sleep with Osteogenesis Imperfecta.
LoMauro A, Landoni CV, Fraschini P, Molteni F, Aliverti A, Bertoli S, De Amicis R. LoMauro A, et al. Orphanet J Rare Dis. 2021 Oct 18;16(1):435. doi: 10.1186/s13023-021-02058-y. Orphanet J Rare Dis. 2021. PMID: 34663416 Free PMC article.
BACKGROUND: Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. ...We have therefore implemented a multidisciplinary study to assess lung functi …
BACKGROUND: Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequen …
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 …
Long-term follow-up in osteogenesis imperfecta type VI.
Trejo P, Palomo T, Montpetit K, Fassier F, Sato A, Glorieux FH, Rauch F. Trejo P, et al. Osteoporos Int. 2017 Oct;28(10):2975-2983. doi: 10.1007/s00198-017-4141-x. Epub 2017 Jul 9. Osteoporos Int. 2017. PMID: 28689307
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshapi …
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intr …
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 …
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Storoni S, Treurniet S, Maugeri A, Pals G, van den Aardweg JG, van der Pas SL, Elting MW, Kloen P, Micha D, Eekhoff EMW. Storoni S, et al. Front Endocrinol (Lausanne). 2022 Apr 25;13:869604. doi: 10.3389/fendo.2022.869604. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35546999 Free PMC article.
Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. ...The highest hospitalization rate ratio of 8.4 was reported in the patient group between 0 and 19 years old. OI …
Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and c …
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L, Liu B, Dong X, Wu J, Sun C, Xi L, Cheng R, Wu B, Wang H, Tong S, Wang D, Luo F. Yang L, et al. Osteoporos Int. 2022 Jun;33(6):1373-1384. doi: 10.1007/s00198-021-06263-0. Epub 2022 Jan 19. Osteoporos Int. 2022. PMID: 35044492 Free PMC article.
Osteogenesis imperfecta (OI) is a genetic disease with an estimated prevalence of 1 in 13,500 and 1 in 9700. ...The features used in the prediction model were respectively based on variant-type features only, and the optimized features. ...
Osteogenesis imperfecta (OI) is a genetic disease with an estimated prevalence of 1 in 13,500 and 1 in 9700. ...The features u …
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 …
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME. Thompson EM, et al. J Med Genet. 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. J Med Genet. 1987. PMID: 3612715 Free PMC article.
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. ...The radiological appearance at birth predicts prognosis to some extent …
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to nor …
Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow.
Carvalho PAF, Regis TS, Faiçal AVB, Terse-Ramos R, Acosta AX. Carvalho PAF, et al. Rev Paul Pediatr. 2023 Mar 13;41:e2022092. doi: 10.1590/1984-0462/2023/41/2022092. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 36921178 Free PMC article.
OBJECTIVE: This study aims to evaluate the respiratory function of children and adolescents with osteogenesis imperfecta (OI) followed up at a referral center. METHODS: A cross-sectional study was conducted with a non-probabilistic sample. ...Regarding the classific …
OBJECTIVE: This study aims to evaluate the respiratory function of children and adolescents with osteogenesis imperfecta (OI) …
Activities and participation in young adults with osteogenesis imperfecta.
Montpetit K, Dahan-Oliel N, Ruck-Gibis J, Fassier F, Rauch F, Glorieux F. Montpetit K, et al. J Pediatr Rehabil Med. 2011;4(1):13-22. doi: 10.3233/PRM-2011-0149. J Pediatr Rehabil Med. 2011. PMID: 21757806
The objective of this cross-sectional study was to compare the activities and participation in the domains of mobility, self-care, domestic life and social functioning in young adults according to osteogenesis imperfecta (OI) type. Fifty-four former OI patien …
The objective of this cross-sectional study was to compare the activities and participation in the domains of mobility, self-care, domestic …
42 results