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

Year Number of Results
1976 1
1984 2
1988 1
1989 1
1990 1
1993 1
1994 1
1995 1
1996 3
1997 1
1998 2
1999 2
2000 1
2002 2
2003 2
2004 2
2005 1
2006 4
2007 2
2008 5
2009 1
2010 4
2011 3
2012 3
2013 6
2014 7
2015 11
2016 11
2017 12
2018 9
2019 5
2020 5
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2022 8
2023 8
2024 4

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118 results

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Page 1
Osteogenesis imperfecta: diagnosis and treatment.
Palomo T, Vilaça T, Lazaretti-Castro M. Palomo T, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 28863000 Review.
RECENT FINDINGS: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. ...However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under …
RECENT FINDINGS: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. ...
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recogn …
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P. Jaruga A, et al. Clin Genet. 2016 Nov;90(5):393-402. doi: 10.1111/cge.12812. Epub 2016 Jun 30. Clin Genet. 2016. PMID: 27272193 Review.
It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal dis …
It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters …
Osteogenesis imperfecta: diagnosis and treatment.
Biggin A, Munns CF. Biggin A, et al. Curr Osteoporos Rep. 2014 Sep;12(3):279-88. doi: 10.1007/s11914-014-0225-0. Curr Osteoporos Rep. 2014. PMID: 24964776 Review.
Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. OI is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes impli …
Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short sta …
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.
Both international consensus guidelines on rehabilitation and disease-specific growth charts have been welcomed by clinical teams. The early involvement of multidisciplinary specialist care is critical in ensuring optimal care for the infant with severe OI. ...
Both international consensus guidelines on rehabilitation and disease-specific growth charts have been welcomed by clinical teams. The early …
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor beta-activated kinase 1, which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to two distinct disorders: frontometaphy …
Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor beta-activated kinase 1, …
Different clinical presentation and management of temporal bone fibrous dysplasia in children.
Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D, Burduk P. Mierzwiński J, et al. World J Surg Oncol. 2018 Jan 15;16(1):5. doi: 10.1186/s12957-017-1302-5. World J Surg Oncol. 2018. PMID: 29335001 Free PMC article. Review.
BACKGROUND: Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most cases. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Temporal bon …
BACKGROUND: Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a …
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.
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. ...New therapies with other anti-resorptives as we …
Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to inherite …
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.
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arter …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased ext …
118 results