Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.
Osteogenesis Imperfecta
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Last Posted: Apr 21, 2023
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Wei Zhou et al. J Bone Miner Res - From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Silvia Storoni et al. Biomolecules 2023 13(2) - Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
Syu Yu-Min et al. Journal of personalized medicine 2022 12(8) - Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Storoni Silvia et al. Frontiers in endocrinology 2022 13869604 - Understanding Musculoskeletal Disorders Through Next-Generation Sequencing.
Garg Bhavuk et al. JBJS reviews 2022 10(4) - Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi Inusha et al. Journal of pediatric genetics 2022 11(1) 81-86 - Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.
Hildebrandt Clara et al. Child abuse & neglect 2022 125105480 - Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac Jean-Philippe et al. Human genetics 2021 - Osteogenesis Imperfecta and hearing loss in the paediatric population.
Joseph Judith K et al. International journal of pediatric otorhinolaryngology 2021 150110914 - Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021 - Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.
Hill Melissa et al. Disability and health journal 2021 101168 - Reproductive options for families at risk of Osteogenesis Imperfecta: a review.
Zhytnik Lidiia et al. Orphanet journal of rare diseases 2020 May 15(1) 128 - The day-to-day experiences of caring for children with Osteogenesis Imperfecta: A qualitative descriptive study.
Castro Aimee R et al. Journal of clinical nursing 2020 Apr - The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Fernandes A M et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020 Mar - [Prenatal gene diagnosis of 200 fetuses at high risk of osteogenesis imperfect].
Zhao X L et al. Zhonghua yi xue za zhi 2019 Nov 99(42) 3328-3334 - Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Balasubramanian Meena et al. Molecular genetics & genomic medicine 2019 Sep e912 - Osteogenesis imperfecta in Brazilian patients.
Trancozo Maira et al. Genetics and molecular biology 2019 Aug - Mendelian bone fragility disorders.
Robinson Marie-Eve et al. Bone 2019 Apr - Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.
Hill Melissa et al. European journal of human genetics : EJHG 2019 Mar - Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
Swezey T et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018 Sep - Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017 28(7) 2095-2101 - Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
Forestier-Zhang Lydia et al. Orphanet journal of rare diseases 2016 11(1) 160 - Family experience with osteogenesis imperfecta type 1: the most distressing situations.
Santos Margarida Custódio Dos et al. Disability and rehabilitation 2017 Jun 1-7 - Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications.
Youngblom Emily et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Sep 44(3) 514-9 - Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire.
Dogba Maman Joyce et al. PloS one 2016 11(1) e0147654 - The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review.
Tsimicalis Argerie et al. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2016 Aug (8) 1877-96 - Bisphosphonate therapy for osteogenesis imperfecta.
Dwan Kerry et al. Cochrane Database Syst Rev 2014 CD005088 - From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta.
Dogba Maman Joyce et al. BMC Health Serv Res 2014 489 - Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Marini Joan C et al. Curr. Opin. Pediatr. 2014 Aug (4) 500-7 - Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family.
Primorac Dragan et al. Coll Antropol 2014 Jun (2) 767-72
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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