Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1969 1
1974 2
1982 1
1993 1
1998 1
1999 1
2000 1
2003 1
2006 1
2008 1
2010 3
2011 1
2012 1
2015 4
2016 2
2017 2
2018 2
2019 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
Advances in the Classification and Treatment of Osteogenesis Imperfecta.
Thomas IH, DiMeglio LA. Thomas IH, et al. Curr Osteoporos Rep. 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. Curr Osteoporos Rep. 2016. PMID: 26861807 Review.
In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imperfecta, vascular fragility, and hearing loss. Medical management is focused on minimizing the morbidity of fractures, pain, and bone deform …
In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imperfe …
Osteogenesis imperfecta: pathophysiology and treatment.
Hoyer-Kuhn H, Netzer C, Semler O. Hoyer-Kuhn H, et al. Wien Med Wochenschr. 2015 Jul;165(13-14):278-84. doi: 10.1007/s10354-015-0361-x. Epub 2015 Jun 9. Wien Med Wochenschr. 2015. PMID: 26055811 Review.
Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. ...Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the …
Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. ...Add …
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. ...When 3 groups (he …
OBJECTIVE: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta …
Osteogenesis imperfecta: diagnosis and treatment.
Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D. Burnei G, et al. J Am Acad Orthop Surg. 2008 Jun;16(6):356-66. doi: 10.5435/00124635-200806000-00008. J Am Acad Orthop Surg. 2008. PMID: 18524987 Review.
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. ...Three more classifications have subsequently been added. Diagnosis of osteogenesis imperfecta …
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis impe …
What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
Pepin MG, Byers PH. Pepin MG, et al. Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):307-13. doi: 10.1002/ajmg.c.31459. Epub 2015 Nov 14. Am J Med Genet C Semin Med Genet. 2015. PMID: 26566591 Review.
Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic form of bone disease leading to fractures might be missed if clinical evaluation alone is used to make the diagnosis. Diagnostic clinical f …
Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic …
Dentinogenesis imperfecta--clinical presentation and management.
Dhaliwal H, McKaig S. Dhaliwal H, et al. Dent Update. 2010 Jul-Aug;37(6):364-6, 369-71. doi: 10.12968/denu.2010.37.6.364. Dent Update. 2010. PMID: 20929150
Dentinogenesis imperfecta (DI) is a hereditary condition which affects the development of dentine in both the primary and permanent dentitions. ...
Dentinogenesis imperfecta (DI) is a hereditary condition which affects the development of dentine in both the primary and perm …
Diagnosis and management of unusual dental abscesses in children.
Seow WK. Seow WK. Aust Dent J. 2003 Sep;48(3):156-68. doi: 10.1111/j.1834-7819.2003.tb00026.x. Aust Dent J. 2003. PMID: 14640368 Free article. Review.
In addition, inherited conditions which show abnormal dentine such as dentine dysplasia, dentinogenesis imperfecta, and osteogenesis imperfecta predispose the dentition to abscess formation. ...
In addition, inherited conditions which show abnormal dentine such as dentine dysplasia, dentinogenesis imperfecta, and osteog …
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.
Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A. Fratzl-Zelman N, et al. Eur J Med Genet. 2023 Nov;66(11):104856. doi: 10.1016/j.ejmg.2023.104856. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758163 Free article.
Osteogenesis imperfecta (OI) and hypophosphatasia (HPP) are rare skeletal disorders caused by mutations in the genes encoding collagen type I (COL1A, COL1A2) and tissue-non-specific isoenzyme of alkaline phosphatase (ALPL), respectively. ...We report a family, father and t …
Osteogenesis imperfecta (OI) and hypophosphatasia (HPP) are rare skeletal disorders caused by mutations in the genes encoding collage …
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.
Li F, Liu Y, Liu H, Yang J, Zhang F, Feng H. Li F, et al. Oral Dis. 2017 Apr;23(3):360-366. doi: 10.1111/odi.12621. Epub 2017 Jan 24. Oral Dis. 2017. PMID: 27973701
OBJECTIVE: Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I an …
OBJECTIVE: Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis …
Osteogenesis imperfecta: practical treatment guidelines.
Antoniazzi F, Mottes M, Fraschini P, Brunelli PC, Tatò L. Antoniazzi F, et al. Paediatr Drugs. 2000 Nov-Dec;2(6):465-88. doi: 10.2165/00128072-200002060-00005. Paediatr Drugs. 2000. PMID: 11127846 Review.
Surgery may be required in patients with progressive spinal deformity and in those with symptomatic basilar impression. Hearing function, dentinogenesis imperfecta, cardiac and respiratory function, and neurological changes must be monitored. The causal defect of th …
Surgery may be required in patients with progressive spinal deformity and in those with symptomatic basilar impression. Hearing function, …
28 results