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Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study.
Jakubowska-Pietkiewicz E, Maćkowska A, Nowicki J, Woźniak E, Jakub N. Jakubowska-Pietkiewicz E, et al. BMC Pediatr. 2022 Oct 6;22(1):577. doi: 10.1186/s12887-022-03621-7. BMC Pediatr. 2022. PMID: 36203124 Free PMC article.
METHODS: We performed a retrospective analysis of medical records of patients with osteogenesis imperfecta type I and III confirmed by genetic testing. ...
METHODS: We performed a retrospective analysis of medical records of patients with osteogenesis imperfecta type I …
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI).
Graff K, Syczewska M. Graff K, et al. Eur J Pediatr. 2017 Mar;176(3):311-316. doi: 10.1007/s00431-016-2839-y. Epub 2017 Jan 5. Eur J Pediatr. 2017. PMID: 28058531 Free PMC article.
CONCLUSION: These results show that children with type I OI are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old, and, ultimately, their body height is impaired. What is Known: The body height of patients with osteogenes …
CONCLUSION: These results show that children with type I OI are smaller from the beginning than their healthy counterparts, their developmen …
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan …
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once inc …
Bone properties by nanoindentation in mild and severe osteogenesis imperfecta.
Albert C, Jameson J, Toth JM, Smith P, Harris G. Albert C, et al. Clin Biomech (Bristol, Avon). 2013 Jan;28(1):110-6. doi: 10.1016/j.clinbiomech.2012.10.003. Epub 2012 Nov 7. Clin Biomech (Bristol, Avon). 2013. PMID: 23141422
Bone material properties have not been characterized in individuals with the most common form of osteogenesis imperfecta, type I. METHODS: Bone tissue elastic modulus and hardness were measured by nanoindentation in eleven osteotomy specimens that were …
Bone material properties have not been characterized in individuals with the most common form of osteogenesis imperfecta, t …
34 results