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

Year Number of Results
1994 1
1995 1
2001 2
2010 1
2011 1
2012 2
2015 1
2016 1
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2022 1
2023 4
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14 results

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Page 1
Early Life Management of Osteogenesis Imperfecta.
Arundel P, Borg SA. Arundel P, et al. Curr Osteoporos Rep. 2023 Dec;21(6):779-786. doi: 10.1007/s11914-023-00823-5. Epub 2023 Sep 26. Curr Osteoporos Rep. 2023. PMID: 37752354 Free PMC article. Review.
PURPOSE OF REVIEW: This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfecta (OI) during the first year of life, focusing on those with severe disease. ...
PURPOSE OF REVIEW: This review aims to provide a review of the multidisciplinary management of infants with osteogenesis imperfect
SP7: from Bone Development to Skeletal Disease.
Wang JS, Tokavanich N, Wein MN. Wang JS, et al. Curr Osteoporos Rep. 2023 Apr;21(2):241-252. doi: 10.1007/s11914-023-00778-7. Epub 2023 Mar 7. Curr Osteoporos Rep. 2023. PMID: 36881265 Free PMC article. Review.
PURPOSE OF REVIEW: The purpose of this review is to summarize the different roles of the transcription factor SP7 in regulating bone formation and remodeling, discuss current studies in investigating the causal relationship between SP7 mutations and human skeletal disease, and hi …
PURPOSE OF REVIEW: The purpose of this review is to summarize the different roles of the transcription factor SP7 in regulating bone formati …
IFITM5 mutations and osteogenesis imperfecta.
Hanagata N. Hanagata N. J Bone Miner Metab. 2016 Mar;34(2):123-31. doi: 10.1007/s00774-015-0667-1. Epub 2015 Jun 2. J Bone Miner Metab. 2016. PMID: 26031935 Review.
.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptom …
.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI- …
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. ...MRA showed an IA in the left anterior cerebral artery. Case 3 was a 35-year-old woman with type 3 OI with blue sclera, dentinogenes
Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. .
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Ned Tijdschr Geneeskd. 2012;156(21):A4585. Ned Tijdschr Geneeskd. 2012. PMID: 22617071 Review. Dutch.
Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a consequence of diminished or abnormal production of collagen type I. ...It is also a genetic
Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causa
Osteogenesis imperfecta at the beginning of bone and joint decade.
Primorac D, Rowe DW, Mottes M, Barisić I, Anticević D, Mirandola S, Gomez Lira M, Kalajzić I, Kusec V, Glorieux FH. Primorac D, et al. Croat Med J. 2001 Aug;42(4):393-415. Croat Med J. 2001. PMID: 11471191 Free article. Review.
Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. ...In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of m
Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. ...I
Allele-specific gene silencing in osteogenesis imperfecta.
Ljunggren Ö, Lindahl K, Rubin CJ, Kindmark A. Ljunggren Ö, et al. Endocr Dev. 2011;21:85-90. doi: 10.1159/000328133. Epub 2011 Aug 22. Endocr Dev. 2011. PMID: 21865757 Review.
OI is caused by mutations in the genes encoding for collagen type I COL1A1 and COL1A2, respectively. The patients suffer from bone fragility, and the severity can range from mild, with fractures in the youth, to lethal forms. ...
OI is caused by mutations in the genes encoding for collagen type I COL1A1 and COL1A2, respectively. The patients suffer from bone fr …
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
Management of nasal deformity in osteogenesis imperfecta.
Bilkay U, Tiftikcioglu YO, Mezili C. Bilkay U, et al. J Craniofac Surg. 2010 Sep;21(5):1465-7. doi: 10.1097/SCS.0b013e3181ecc55a. J Craniofac Surg. 2010. PMID: 20856037 Review.
Osteogenesis imperfecta (OI) is a rare hereditary disorder of collagen synthesis that results in weak bones that are easily fractured resulting in deformities. Osteogenesis imperfecta refers to a wide array of genetic disorders with variable phenotypic
Osteogenesis imperfecta (OI) is a rare hereditary disorder of collagen synthesis that results in weak bones that are easily fr
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J. Cui Y, et al. Orphanet J Rare Dis. 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. Orphanet J Rare Dis. 2012. PMID: 22913777 Free PMC article. Review.
The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and ost …
The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis …
14 results