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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 229
1994 198
1995 220
1996 241
1997 244
1998 268
1999 277
2000 357
2001 350
2002 416
2003 590
2004 648
2005 809
2006 1018
2007 1125
2008 1337
2009 1199
2010 1484
2011 1645
2012 1995
2013 2257
2014 2810
2015 3101
2016 3334
2017 3645
2018 3898
2019 4244
2020 4107
2021 5
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40,376 results
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Page 1
Orphan diseases: state of the drug discovery art.
Volmar CH, Wahlestedt C, Brothers SP. Volmar CH, et al. Wien Med Wochenschr. 2017 Jun;167(9-10):197-204. doi: 10.1007/s10354-015-0423-0. Epub 2016 Jan 27. Wien Med Wochenschr. 2017. PMID: 26819216 Free PMC article.
Since 1983 more than 300 drugs have been developed and approved for orphan diseases. However, considering the development of novel diagnosis tools, the number of rare diseases vastly outpaces therapeutic discovery. Academic centers and nonprofit instit …
Since 1983 more than 300 drugs have been developed and approved for orphan diseases. However, considering the development of n …
Brexit and rare diseases: big risk, bigger opportunity?
Hyry HI, Cox TM, Roos JC. Hyry HI, et al. Curr Med Res Opin. 2017 Apr;33(4):783-784. doi: 10.1080/03007995.2017.1284053. Epub 2017 Mar 9. Curr Med Res Opin. 2017. PMID: 28100081
The impact may be particularly drastic for patients for whom EU law protects the right to treatment. At a particular risk are patients with rare, 'orphan', diseases whose treatments are uniquely enabled at the EU level. We examine the potential effects of Bre …
The impact may be particularly drastic for patients for whom EU law protects the right to treatment. At a particular risk are patients with …
A first description of the Colombian national registry for rare diseases.
Mateus HE, Pérez AM, Mesa ML, Escobar G, Gálvez JM, Montaño JI, Ospina ML, Laissue P. Mateus HE, et al. BMC Res Notes. 2017 Oct 26;10(1):514. doi: 10.1186/s13104-017-2840-1. BMC Res Notes. 2017. PMID: 29073918 Free PMC article.
In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. ...The survey reported 653 rare diseases. The most common disease
In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Col …
Evaluating and Valuing Drugs for Rare Conditions: No Easy Answers.
Ollendorf DA, Chapman RH, Pearson SD. Ollendorf DA, et al. Value Health. 2018 May;21(5):547-552. doi: 10.1016/j.jval.2018.01.008. Value Health. 2018. PMID: 29753351 Free article.
We find ourselves in an era of unprecedented growth in the development and use of so-called "orphan" drugs to treat rare diseases, which are poised to represent more than one-fifth of pharmaceutical expenditures by 2022. ...In this article, we explore the gen …
We find ourselves in an era of unprecedented growth in the development and use of so-called "orphan" drugs to treat rare di
Insights into the pharmaceuticals and mechanisms of neurological orphan diseases: Current Status and future expectations.
Ramalho TC, de Castro AA, Tavares TS, Silva MC, Silva DR, Cesar PH, Santos LA, da Cunha EFF, Nepovimova E, Kuca K. Ramalho TC, et al. Prog Neurobiol. 2018 Oct;169:135-157. doi: 10.1016/j.pneurobio.2018.06.011. Epub 2018 Jul 4. Prog Neurobiol. 2018. PMID: 29981392 Review.
Several rare or orphan diseases have been characterized that singly affect low numbers of people, but cumulatively reach 6%-10% of the population in Europe and in the United States. Human genetics has shown to be broadly effective when evaluating subjacent ge …
Several rare or orphan diseases have been characterized that singly affect low numbers of people, but cumulatively reac …
[Orphan diseases in rheumatology. Exemplified by polyarteritis nodosa].
Rubbert-Roth A. Rubbert-Roth A. Z Rheumatol. 2012 Feb;71(2):119-21. doi: 10.1007/s00393-011-0902-7. Z Rheumatol. 2012. PMID: 22370802 Review. German.
The term orphan disease is used for those diseases which are diagnosed in less than 5 out of 10,000 persons. An example of an orphan disease in rheumatology is panarteritis nodosa (PAN), the clinical manifestation of which ranges from mild forms …
The term orphan disease is used for those diseases which are diagnosed in less than 5 out of 10,000 persons. An example …
[Epidemiologic challenges in rare diseases].
Rückinger S, Boneberger A. Rückinger S, et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2008 May;51(5):483-90. doi: 10.1007/s00103-008-0533-6. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2008. PMID: 18696139 Review. German.
Rare diseases, often called "orphan diseases", are a special challenge for epidemiologic research. Apart from the mere logistic effort for sample collection, there are considerable implications in statistical methodology. Usually one will not find enou
Rare diseases, often called "orphan diseases", are a special challenge for epidemiologic research. Apart from th
Targeted therapy in rare cancers--adopting the orphans.
Munoz J, Kurzrock R. Munoz J, et al. Nat Rev Clin Oncol. 2012 Nov;9(11):631-42. doi: 10.1038/nrclinonc.2012.160. Epub 2012 Sep 11. Nat Rev Clin Oncol. 2012. PMID: 22965154 Review.
Designation of a rare 'orphan' disease is usually conferred by a prevalence of one in 1,500 to 2,500 individuals. Increasingly, orphan diseases are also being defined by their molecular fingerprints. ...
Designation of a rare 'orphan' disease is usually conferred by a prevalence of one in 1,500 to 2,500 individuals. Incre …
The orphan disease networks.
Zhang M, Zhu C, Jacomy A, Lu LJ, Jegga AG. Zhang M, et al. Am J Hum Genet. 2011 Jun 10;88(6):755-766. doi: 10.1016/j.ajhg.2011.05.006. Am J Hum Genet. 2011. PMID: 21664998 Free PMC article.
To identify and investigate relationships based on shared genes or shared functional features, we have conducted a bioinformatic-based global analysis of all orphan diseases with known disease-causing mutant genes. Starting with a bipartite network of known O …
To identify and investigate relationships based on shared genes or shared functional features, we have conducted a bioinformatic-based globa …
Pharmacoeconomics of Orphan Disease Treatment with a Focus on Hereditary Angioedema.
Lumry WR. Lumry WR. Immunol Allergy Clin North Am. 2017 Aug;37(3):617-628. doi: 10.1016/j.iac.2017.03.004. Epub 2017 May 13. Immunol Allergy Clin North Am. 2017. PMID: 28687113 Review.
This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and the impact of treatment on health care payment systems. ...The impact of availability of and access to novel and specific therapies on morbidi …
This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and th …
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