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Results by year

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

Year Number of Results
1964 1
1965 1
1966 1
1967 1
1971 1
1972 2
1973 2
1975 2
1977 7
1978 4
1979 2
1980 3
1981 2
1982 5
1983 3
1984 2
1985 4
1986 5
1987 6
1988 5
1989 7
1990 12
1991 4
1992 5
1993 11
1994 9
1995 12
1996 14
1997 7
1998 12
1999 22
2000 15
2001 12
2002 13
2003 20
2004 13
2005 8
2006 12
2007 15
2008 24
2009 16
2010 12
2011 27
2012 25
2013 19
2014 25
2015 29
2016 27
2017 21
2018 23
2019 26
2020 36
2021 30
2022 22
2023 22
2024 9

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613 results

Results by year

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Page 1
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. Deguchi M, et al. Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464. Medicina (Kaunas). 2021. PMID: 34068551 Free PMC article. Review.
The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only detect OI accurately but also predict lethality before birth. Moreover, genetic testing, either noninvasive or invasive, can further con …
The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only det …
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO. Van Dijk FS, et al. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715559 Free PMC article. Review.
This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. ...
This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to e …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better manage …
The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It …
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L. Maioli M, et al. Eur J Hum Genet. 2019 Jul;27(7):1090-1100. doi: 10.1038/s41431-019-0373-x. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886339 Free PMC article. Clinical Trial.
Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pieces for completing the puzzle, also thanks to the inclusion of clinical signs never considered before and to the large number of OI Italian …
Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pi …
Osteogenesis imperfecta.
Byers PH, Steiner RD. Byers PH, et al. Annu Rev Med. 1992;43:269-82. doi: 10.1146/annurev.me.43.020192.001413. Annu Rev Med. 1992. PMID: 1580589 Review.
Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads into molecular diagnosis and prognostic counseling. Nonetheless, further investigation is needed urgently to identify forms of med …
Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroa …
Collagen transport and related pathways in Osteogenesis Imperfecta.
Claeys L, Storoni S, Eekhoff M, Elting M, Wisse L, Pals G, Bravenboer N, Maugeri A, Micha D. Claeys L, et al. Hum Genet. 2021 Aug;140(8):1121-1141. doi: 10.1007/s00439-021-02302-2. Epub 2021 Jun 24. Hum Genet. 2021. PMID: 34169326 Free PMC article. Review.
Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far …
Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease cours …
Transition of young adults with metabolic bone diseases to adult care.
Ross J, Bowden MR, Yu C, Diaz-Thomas A. Ross J, et al. Front Endocrinol (Lausanne). 2023 Mar 17;14:1137976. doi: 10.3389/fendo.2023.1137976. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008909 Free PMC article. Review.
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan. With this potential for fulfilling lives as adults comes the need for …
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected child …
Osteogenesis imperfecta in children.
Arshad F, Bishop N. Arshad F, et al. Bone. 2021 Jul;148:115914. doi: 10.1016/j.bone.2021.115914. Epub 2021 Mar 17. Bone. 2021. PMID: 33722772
Whilst meta-analyses suggest that anti-fracture efficacy across the life course is equivocal, there is good evidence that for children bisphosphonates reduce fracture risk, increase vertebral size and improve vertebral shape, as well as improving motor function and mobilit …
Whilst meta-analyses suggest that anti-fracture efficacy across the life course is equivocal, there is good evidence that for childre …
Bone density, fractures and the associated factors in iranian children and adolescent with Osteogenesis Imperfecta.
Mohsenzade P, Amirhakimi A, Honar N, Saki F, Omrani GHR, Dabbaghmanesh M. Mohsenzade P, et al. BMC Pediatr. 2021 Jan 14;21(1):37. doi: 10.1186/s12887-020-02491-1. BMC Pediatr. 2021. PMID: 33446151 Free PMC article.
Fracture episodes during treatment was significantly influenced by time of Pamidronate start, courses of Pamidronate injection, puberty and sun exposure (P values = 0.015, 0.030, 0.044 and 0.032, respectively). ...The present results revealed that early initiation of Pamid …
Fracture episodes during treatment was significantly influenced by time of Pamidronate start, courses of Pamidronate injection, puber …
Advances in osteogenesis imperfecta.
Cole WG. Cole WG. Clin Orthop Relat Res. 2002 Aug;(401):6-16. doi: 10.1097/00003086-200208000-00003. Clin Orthop Relat Res. 2002. PMID: 12151877 Review.
In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of the disease significantly. Somatic cell therapy, using allogeneic bone marrow and mesenchymal stromal cell transplantation, are in their ea …
In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of …
613 results