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Quoted phrase not found in phrase index: "Osteogenesis imperfecta type 16"
Page 1
Primary osteoporosis.
Bishop N. Bishop N. Endocr Dev. 2009;16:157-69. doi: 10.1159/000223694. Epub 2009 Jun 3. Endocr Dev. 2009. PMID: 19494666 Review.
Primary osteoporosis, as defined by bone loss associated with significant fracture, is most commonly caused in children by one or other of the forms of osteogenesis imperfecta (OI). These are a group of disorders that are characterised by abnormalities in type …
Primary osteoporosis, as defined by bone loss associated with significant fracture, is most commonly caused in children by one or other of t …
Osteogenesis imperfecta. Report of 15 Cases.
Díaz López M, Alegre Sancho JJ, Martínez-Ferrer À. Díaz López M, et al. Reumatol Clin (Engl Ed). 2020 Mar-Apr;16(2 Pt 2):165-168. doi: 10.1016/j.reuma.2018.05.004. Epub 2018 Jul 17. Reumatol Clin (Engl Ed). 2020. PMID: 30017614 Free article. English, Spanish.
Osteogenesis imperfecta (OI) is an inherited connective tissue disease. The disease has been linked to mutations in one of the type I collagen genes. The diagnosis is based on clinical and radiologic findings. ...
Osteogenesis imperfecta (OI) is an inherited connective tissue disease. The disease has been linked to mutations in one of the …
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 …
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 …
What type of valve is most appropriate for osteogenesis imperfecta patients?
Dimitrakakis G, Challoumas D, von Oppell UO. Dimitrakakis G, et al. Interact Cardiovasc Thorac Surg. 2014 Sep;19(3):499-504. doi: 10.1093/icvts/ivu152. Epub 2014 May 29. Interact Cardiovasc Thorac Surg. 2014. PMID: 24876219 Review.
A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was in osteogenesis imperfecta (OI) patients with valve disease undergoing valve replacement which type of valve (bioprosthetic or mechanical) is m …
A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was in osteogenesis …
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P, Zhou Y, Tan Z, Lin Y, Lin DL, Wu J, Li Z, Shek HT, Wu J, Hu Y, Zhu F, Chan D, Cheung KM, To MK. Chen P, et al. Orphanet J Rare Dis. 2023 Sep 20;18(1):295. doi: 10.1186/s13023-023-02906-z. Orphanet J Rare Dis. 2023. PMID: 37730650 Free PMC article.
BACKGROUND: Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known. ...CONCLUSION: The severity and progression of scoliosis in osteogenesis impe …
BACKGROUND: Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, f …
Bladder and bowel symptoms experienced by children with osteogenesis imperfecta.
Martins G, Siedlikowski M, Coelho AKS, Rauch F, Tsimicalis A. Martins G, et al. J Pediatr (Rio J). 2020 Jul-Aug;96(4):472-478. doi: 10.1016/j.jped.2018.12.008. Epub 2019 Feb 22. J Pediatr (Rio J). 2020. PMID: 30802423 Free PMC article.
OBJECTIVE: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children. ...The most prevalent …
OBJECTIVE: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children wi …
Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.
Erbaş İM, İlgün Gürel D, Manav Kabayeğit Z, Koç A, Ünüvar T, Abacı A, Böber E, Anık A. Erbaş İM, et al. Connect Tissue Res. 2022 Jul;63(4):349-358. doi: 10.1080/03008207.2021.1932853. Epub 2021 Jun 9. Connect Tissue Res. 2022. PMID: 34107839
BACKGROUND: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. ...Thirteen different variants (nine were novel) were described in 16 patients in COL1A1, COL1A2, and P3H1 genes. Our siblings …
BACKGROUND: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile b …
When Is an Isolated Olecranon Fracture Pathognomonic for Osteogenesis Imperfecta?
VanEenenaam DP Jr, Houlihan N, Heyer JH, Flynn JM, Mitchell SL. VanEenenaam DP Jr, et al. J Pediatr Orthop. 2022 May-Jun 01;42(5):e515-e519. doi: 10.1097/BPO.0000000000002100. J Pediatr Orthop. 2022. PMID: 35200208
BACKGROUND: Isolated fractures of the olecranon process of the ulna in pediatric patients with open physes are classically considered pathognomonic for osteogenesis imperfecta (OI). The purpose of this study was to distinguish the clinical manifestations of isolated …
BACKGROUND: Isolated fractures of the olecranon process of the ulna in pediatric patients with open physes are classically considered pathog …
Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family.
Primorac D, Anticević D, Barisić I, Hudetz D, Ivković A. Primorac D, et al. Coll Antropol. 2014 Jun;38(2):767-72. Coll Antropol. 2014. PMID: 25145021 Review.
Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. ...Presently, molecular defects in 16 different genes have been discovered to result in at leas …
Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherite …
76 results