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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
• Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
  Van Dijk F S et al. Am. J. Med. Genet. A 2014 Jun (6) 1470-81
• Treatment of osteogenesis imperfecta in adults.
  Lindahl Katarina et al. Eur. J. Endocrinol. 2014 Aug (2) R79-90
• Update on the evaluation and treatment of osteogenesis imperfecta.
  Harrington Jennifer et al. Pediatr. Clin. North Am. 2014 Dec (6) 1243-57
• What is new in genetics and osteogenesis imperfecta classification?
  Valadares Eugênia R et al. J Pediatr (Rio J) 2014 Nov-Dec (6) 536-41
• Genetics of Osteogenesis Imperfecta
  ET Rush et al, Medscape, 2015
• Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
  
• Clinical utility gene card for: osteogenesis imperfecta.
  
• Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
  
• Osteogenesis imperfecta
  From NCATS Genetic and Rare Diseases Information Center
• Osteogenesis imperfecta Levin type
  From NCATS Genetic and Rare Diseases Information Center

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