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Quoted phrase not found in phrase index: "Osteogenesis imperfecta type 8"
Page 1
Collagen transport and related pathways in Osteogenesis Imperfecta.
Claeys L, Storoni S, Eekhoff M, Elting M, Wisse L, Pals G, Bravenboer N, Maugeri A, Micha D. Claeys L, et al. Hum Genet. 2021 Aug;140(8):1121-1141. doi: 10.1007/s00439-021-02302-2. Epub 2021 Jun 24. Hum Genet. 2021. PMID: 34169326 Free PMC article. Review.
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disea …
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main …
Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W. Sinikumpu JJ, et al. Injury. 2015 Aug;46(8):1440-6. doi: 10.1016/j.injury.2015.04.021. Epub 2015 Apr 22. Injury. 2015. PMID: 25943292 Review.
Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. ...In this systematic review we describe the present state-of-art in treating the most severe type of OI in newborn and preschool childr …
Osteogenesis imperfecta (OI) is a group of genetic disorders, of which Type III is the most severe among survivors. ... …
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 …
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 …
Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.
Wei S, Yao Y, Shu M, Gao L, Zhao J, Li T, Wang Y, Xu C. Wei S, et al. Endocr Pract. 2022 Aug;28(8):760-766. doi: 10.1016/j.eprac.2022.05.003. Epub 2022 May 9. Endocr Pract. 2022. PMID: 35550181 Free article.
OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta (OI). METHODS: We established a Chinese hospitalized cohort with OI and followed them up for an average of 6 years. ...CON …
OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis …
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB. Travessa AM, et al. Eur J Med Genet. 2023 Nov;66(11):104867. doi: 10.1016/j.ejmg.2023.104867. Epub 2023 Oct 13. Eur J Med Genet. 2023. PMID: 37839784
Osteogenesis imperfecta (OI) type VI is an extremely rare form of OI caused by biallelic variants in the SERPINF1 gene, which codes for the pigment-epithelium derived factor (PEDF). ...The three patients carrying the frameshift variant were born in nearby reg …
Osteogenesis imperfecta (OI) type VI is an extremely rare form of OI caused by biallelic variants in the SERPINF1 gene, …
Pediatric Hand and Wrist Fractures in Osteogenesis Imperfecta: An Analysis of Incidence, Patient-specific Risk Factors, and Fracture-specific Characteristics.
Chhabra BN, Phillips T, Mitchell TW, Gattu N, Ezeokoli EU, Bell B. Chhabra BN, et al. J Pediatr Orthop. 2023 Sep 1;43(8):e680-e685. doi: 10.1097/BPO.0000000000002449. Epub 2023 Jun 5. J Pediatr Orthop. 2023. PMID: 37278060
BACKGROUND: Children with osteogenesis imperfecta (OI) frequently present with fractures; however, hand and wrist fractures (HWFs), those distal to the radial and ulnar diaphysis, are seldom observed. ...Multivariate regression showed that older patient age (odds ra …
BACKGROUND: Children with osteogenesis imperfecta (OI) frequently present with fractures; however, hand and wrist fractures (H …
Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.
Lin X, Hu J, Zhou B, Zhang Q, Jiang Y, Wang O, Xia W, Xing X, Li M. Lin X, et al. J Endocrinol Invest. 2024 Jan;47(1):67-77. doi: 10.1007/s40618-023-02123-2. Epub 2023 Jun 4. J Endocrinol Invest. 2024. PMID: 37270749 Free PMC article.
Glycine substitution of COL1A1 or COL1A2 or biallelic variants led to more severe phenotypes than haploinsufficiency of collagen type I alpha chains, which induced the mildest phenotypes. Although the gene mutation spectrum varied among countries, the fracture incidence wa …
Glycine substitution of COL1A1 or COL1A2 or biallelic variants led to more severe phenotypes than haploinsufficiency of collagen type …
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 …
Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.
Mercier-Guery A, Millet M, Merle B, Collet C, Bagouet F, Borel O, Sornay-Rendu E, Szulc P, Vignot E, Gensburger D, Fontanges E, Croset M, Chapurlat R. Mercier-Guery A, et al. J Bone Miner Res. 2023 Nov;38(11):1665-1678. doi: 10.1002/jbmr.4912. Epub 2023 Oct 2. J Bone Miner Res. 2023. PMID: 37715362 Free article.
As epigenetic regulators of gene expression, circulating micro-RiboNucleic Acids (miRNAs) have been described in several bone diseases as potential prognostic markers. The aim of our study was to identify circulating miRNAs potentially associated with the severity of os …
As epigenetic regulators of gene expression, circulating micro-RiboNucleic Acids (miRNAs) have been described in several bone diseases as po …
65 results