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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 18, 2024
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Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Wei Zhou et al. J Bone Miner Res
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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Silvia Storoni et al. Biomolecules 2023 13(2)
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Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
Syu Yu-Min et al. Journal of personalized medicine 2022 12(8)
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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
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Understanding Musculoskeletal Disorders Through Next-Generation Sequencing.
Garg Bhavuk et al. JBJS reviews 2022 10(4)
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Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi Inusha et al. Journal of pediatric genetics 2022 11(1) 81-86
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Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.
Hildebrandt Clara et al. Child abuse & neglect 2022 125105480
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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
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Osteogenesis Imperfecta and hearing loss in the paediatric population.
Joseph Judith K et al. International journal of pediatric otorhinolaryngology 2021 150110914
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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
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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
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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
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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
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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
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[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
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Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Balasubramanian Meena et al. Molecular genetics & genomic medicine 2019 Sep e912
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Osteogenesis imperfecta in Brazilian patients.
Trancozo Maira et al. Genetics and molecular biology 2019 Aug
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Mendelian bone fragility disorders.
Robinson Marie-Eve et al. Bone 2019 Apr
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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
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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
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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
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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
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Family experience with osteogenesis imperfecta type 1: the most distressing situations.
Santos Margarida Custódio Dos et al. Disability and rehabilitation 2017 Jun 1-7
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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
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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
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Treatment of osteogenesis imperfecta in adults.
Lindahl Katarina et al. Eur. J. Endocrinol. 2014 Aug (2) R79-90
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What is new in genetics and osteogenesis imperfecta classification?
Valadares Eugênia R et al. J Pediatr (Rio J) 2014 Nov-Dec (6) 536-41
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Update on the evaluation and treatment of osteogenesis imperfecta.
Harrington Jennifer et al. Pediatr. Clin. North Am. 2014 Dec (6) 1243-57
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Genetics of Osteogenesis Imperfecta
ET Rush et al, Medscape, 2015
Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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