Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1994
2025

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

Year Number of Results
1994 2
1995 1
2004 1
2009 2
2013 1
2014 1
2015 1
2016 1
2018 1
2019 2
2021 4
2022 1
2023 2
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
Osteogenesis Imperfecta: Current and Prospective Therapies.
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL. Botor M, et al. Biomolecules. 2021 Oct 10;11(10):1493. doi: 10.3390/biom11101493. Biomolecules. 2021. PMID: 34680126 Free PMC article. Review.
Osteogenesis Imperfecta (OI) is a group of connective tissue disorders with a broad range of phenotypes characterized primarily by bone fragility. ...Five types of the disease are commonly distinguished, ranging from a mild (type I) to a lethal one (type
Osteogenesis Imperfecta (OI) is a group of connective tissue disorders with a broad range of phenotypes characterized primaril
Mendelian bone fragility disorders.
Robinson ME, Rauch F. Robinson ME, et al. Bone. 2019 Sep;126:11-17. doi: 10.1016/j.bone.2019.04.021. Epub 2019 Apr 27. Bone. 2019. PMID: 31039433 Review.
This review focusses on conditions where bone fragility is the most conspicuous characteristic, of which osteogenesis imperfecta (OI) is the best-known disorder. The large majority of individuals with an OI phenotype have disease-causing dominant variants in COL1A1 …
This review focusses on conditions where bone fragility is the most conspicuous characteristic, of which osteogenesis imperfecta
Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.
Persiani P, Ranaldi FM, Martini L, Zambrano A, Celli M, D'Eufemia P, Villani C. Persiani P, et al. Medicine (Baltimore). 2016 Aug;95(31):e4505. doi: 10.1097/MD.0000000000004505. Medicine (Baltimore). 2016. PMID: 27495102 Free PMC article. Review.
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-alpha …
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI i …
Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.
Bala MM, Bala KA. Bala MM, et al. Adv Clin Exp Med. 2021 Dec;30(12):1233-1238. doi: 10.17219/acem/141367. Adv Clin Exp Med. 2021. PMID: 34637196 Free article. Review.
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility, multiple fractures and several extraskeletal disorders. Most cases of OI are caused by mutations in COL1A1/A2. Osteogenesis imperfecta type VIII typic …
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility, multiple fractures and several …
Osteogenesis imperfecta types I-XI: implications for the neonatal nurse.
Womack J. Womack J. Adv Neonatal Care. 2014 Oct;14(5):309-15; quiz 316-7. doi: 10.1097/ANC.0000000000000094. Adv Neonatal Care. 2014. PMID: 24950034 Review.
The phenotype present is determined according to the mutation on the affected gene as well as the type and location of the mutation. Osteogenesis imperfecta is neither preventable nor treatable. Osteogenesis imperfecta is classified into 11
The phenotype present is determined according to the mutation on the affected gene as well as the type and location of the mutation. …
Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review.
Matsushiro M, Harada D, Ueyama K, Kashiwagi H, Ishiura Y, Yamada H, Seino Y. Matsushiro M, et al. Endocr J. 2023 Jul 28;70(7):697-702. doi: 10.1507/endocrj.EJ22-0620. Epub 2023 May 9. Endocr J. 2023. PMID: 37164684 Free article. Review.
Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. ...Our literature review revealed no cases of OI with unruptured IA, but 11 cases of OI with subarachnoid hemorrhage. IA seems unrelat
Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. .
[Rare bone disorders and respective treatments].
Seefried L, Jakob F. Seefried L, et al. Internist (Berl). 2021 May;62(5):486-495. doi: 10.1007/s00108-021-00995-1. Epub 2021 Mar 29. Internist (Berl). 2021. PMID: 33779789 Review. German.
Evolutions regarding the nosology of osteogenesis imperfecta (OI) along with the identification of further causative genes also detected in the context of genetically determined osteoporosis illustrate the pathophysiologic interrelation between monogenetic bone dysp …
Evolutions regarding the nosology of osteogenesis imperfecta (OI) along with the identification of further causative genes als …
A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.
Vankevičienė K, Matulevičienė A, Mazgelytė E, Paliulytė V, Vankevičienė R, Ramašauskaitė D. Vankevičienė K, et al. Genes (Basel). 2023 Nov 10;14(11):2062. doi: 10.3390/genes14112062. Genes (Basel). 2023. PMID: 38003005 Free PMC article. Review.
Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. ...
Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connectiv
Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review.
Castillo H, Samson-Fang L; American Academy for Cerebral Palsy and Developmental Medicine Treatment Outcomes Committee Review Panel. Castillo H, et al. Dev Med Child Neurol. 2009 Jan;51(1):17-29. doi: 10.1111/j.1469-8749.2008.03222.x. Dev Med Child Neurol. 2009. PMID: 19087101 Free article. Review.
This systematic review of the effects of bisphosphonate treatment in children with osteogenesis imperfecta was conducted using the American Academy for Cerebral Palsy and Developmental Medicine methodology for developing systematic reviews of treatment interventions …
This systematic review of the effects of bisphosphonate treatment in children with osteogenesis imperfecta was conducted using …
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.
Basel D, Steiner RD. Basel D, et al. Genet Med. 2009 Jun;11(6):375-85. doi: 10.1097/GIM.0b013e3181a1ff7b. Genet Med. 2009. PMID: 19533842 Free article. Review.
Osteogenesis imperfecta is a systemic heritable disorder of connective tissue whose cardinal manifestation is bone fragility. In approximately 90% of individuals with osteogenesis imperfecta, mutations in either of the genes encoding the pro-alpha1 or
Osteogenesis imperfecta is a systemic heritable disorder of connective tissue whose cardinal manifestation is bone fragility.
19 results