Last Posted: Sep 16, 2021
- 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
- A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients.
Ríos-Rodenas Mercedes et al. J Clin Exp Dent 2015 Feb (1) e153-8
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