Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1867 1
1878 1
1888 2
1909 1
1917 1
1933 1
1937 1
1942 1
1946 14
1947 7
1948 3
1949 5
1950 17
1951 24
1952 32
1953 39
1954 32
1955 32
1956 37
1957 29
1958 41
1959 33
1960 41
1961 35
1962 39
1963 60
1964 62
1965 36
1966 4
1967 5
1968 6
1969 5
1970 4
1971 3
1972 3
1973 4
1974 6
1975 42
1976 61
1977 64
1978 66
1979 55
1980 56
1981 54
1982 58
1983 71
1984 82
1985 98
1986 98
1987 107
1988 111
1989 161
1990 173
1991 194
1992 178
1993 236
1994 198
1995 220
1996 241
1997 244
1998 268
1999 277
2000 357
2001 350
2002 416
2003 590
2004 648
2005 810
2006 1018
2007 1127
2008 1338
2009 1199
2010 1485
2011 1647
2012 2001
2013 2262
2014 2823
2015 3114
2016 3351
2017 3679
2018 3941
2019 4362
2020 4874
2021 6119
2022 3399
Text availability
Article attribute
Article type
Publication date

Search Results

49,475 results
Results by year

Citations

1 article found by citation matching

Search results

Filters applied: . Clear all
Page 1
The burden of rare diseases.
Ferreira CR. Ferreira CR. Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18. Am J Med Genet A. 2019. PMID: 30883013 Review.
Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature …
Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned web …
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
METHODS: Literature reviewResults:Rareness of diseases is not uniformly defined but in the US an orphan disease is diagnosed if the prevalence is <1:200000, in Europe if <5:10000. Most acquired and hereditary neuropathies are orphan diseases …
METHODS: Literature reviewResults:Rareness of diseases is not uniformly defined but in the US an orphan disease is diag …
Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis.
Mechler K, Rausch J, Mountford WK, Ries M. Mechler K, et al. BMC Med Ethics. 2020 Mar 14;21(1):20. doi: 10.1186/s12910-020-0463-x. BMC Med Ethics. 2020. PMID: 32171294 Free PMC article.
Disease awareness is often low and time-to-diagnosis delayed. Different legislations worldwide have created incentives for pharmaceutical companies to develop drugs for orphan diseases. ...CONCLUSIONS: Orphan diseases with a designated and/or ap …
Disease awareness is often low and time-to-diagnosis delayed. Different legislations worldwide have created incentives for pharmaceut …
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Nguengang Wakap S, et al. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527858 Free PMC article.
Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. ...This figure is deri …
Consequently national definitions of 'Rare Diseases' (ranging from prevalence of 5 to 80 per 100 000) represent a variable num …
Rare or orphan diseases -- a useful political concept.
Baxter P. Baxter P. Dev Med Child Neurol. 2012 Jul;54(7):579. doi: 10.1111/j.1469-8749.2012.04338.x. Epub 2012 May 19. Dev Med Child Neurol. 2012. PMID: 22607366 Free article. No abstract available.
Editorial.
Plontke SK. Plontke SK. Laryngorhinootologie. 2021 Apr;100(S 01):S1. doi: 10.1055/s-1397-0832. Epub 2021 Apr 30. Laryngorhinootologie. 2021. PMID: 34352897 Free PMC article.
Rare diseases represent a major challenge for affected patients, their relatives, physicians, nursing staff, and therapists. ...The movie highlights the manifold problems associated with rare diseases - a large number of which still exist today. Howeve …
Rare diseases represent a major challenge for affected patients, their relatives, physicians, nursing staff, and therapists. . …
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Fernandez-Marmiesse A, Gouveia S, Couce ML. Fernandez-Marmiesse A, et al. Curr Med Chem. 2018 Jan 30;25(3):404-432. doi: 10.2174/0929867324666170718101946. Curr Med Chem. 2018. PMID: 28721829 Free PMC article. Review.
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian population have a rare disease. Rare diseases are thus a common problem for clinicians and account for enormous healthcare costs worldwide due to the difficulty of es …
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian population have a rare disease. Rare …
Post-approval Studies for Rare Disease Treatments and Orphan Drugs.
Maier WC, Christensen RA, Anderson P. Maier WC, et al. Adv Exp Med Biol. 2017;1031:197-205. doi: 10.1007/978-3-319-67144-4_11. Adv Exp Med Biol. 2017. PMID: 29214573 Review.
Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National and international regulatory agencies in the US and Europe have adopted similar approaches to requirements post-approval data for rare …
Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National an …
Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.
Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, Hughes DA; International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group. Richter T, et al. Value Health. 2015 Sep;18(6):906-14. doi: 10.1016/j.jval.2015.05.008. Epub 2015 Aug 18. Value Health. 2015. PMID: 26409619 Free article. Review.
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare disease definitions currently used globally. ...CONCLUSIONS: Despite variation in the terminology and prevalence thresholds used to defi …
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare …
Regulating Rare Disease: Safely Facilitating Access to Orphan Drugs.
Bannister JB. Bannister JB. Fordham Law Rev. 2018 Mar;86(4):1889-921. Fordham Law Rev. 2018. PMID: 29993206
While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S. Food and Drug Administration (FDA) approved treatment. ...Indeed, small patient populations, incomplete scientific understanding of rar …
While approximately one in ten Americans suffers from a rare disease, only 5 percent of rare diseases have a U.S …
49,475 results
You have reached the last available page of results. Please see the User Guide for more information.