606
Views
157
CrossRef citations to date
0
Altmetric
Reviews

Orphan drugs and rare diseases: a scientometric review (2000 – 2014)

, &

Bibliography

  • Arno PS, Bonuck K, Davis M. Rare diseases, drug development, and AIDS: the impact of the Orphan Drug Act. Milbank Q 1995;73(2):231-51
  • Dear JW, Lilitkarntakul P, Webb DJ. Are rare diseases still orphans or happily adopted? The challenges of developing and using orphan medicinal products. Br J Clin Pharmacol 2006;62(3):264-71
  • Chen CM, CiteSpace II. Detecting and visualizing emerging trends and transient patterns in scientific literature. J Am Soc Inf Sci Technol 2006;57(3):359-77
  • Chen C, Hu Z, Liu S, Tseng H. Emerging trends in regenerative medicine: a scientometric analysis in CiteSpace. Expert Opin Biol Ther 2012;12(5):593-608
  • Chen CM, Ibekwe-SanJuan F, Hou JH. The structure and dynamics of cocitation clusters: a multiple-perspective cocitation analysis. J Am Soc Inf Sci Technol 2010;61(7):1386-409
  • Garfield E. Citation indexes for science: a new dimension in documentation through association of ideas. Science 1955;122(3159):108-11
  • Small HG. A co-citation model of a scientific specialty: a longitudinal study of collagen research. Soc Stud Sci 1977;7:139-66
  • Kleinberg J. Bursty and hierarchical structure in streams. Proceedings of the 8th ACM SIGKDD International Conference on Knowledge Discovery and Data Mining; 23 – 26 July 2002; ACM Press, Edmonton, Alberta, Canada; 2002. p. 91-101, DOI:10.1145/775047.775061
  • Chen C. Hindsight, insight, and foresight: a multi-level structural variation approach to the study of a scientific field. Technol Anal Strateg Manage 2013;25(6):619-40
  • Cheung RY, Cohen JC, Illingworth P. Orphan drug policies: implications for the United States, Canada, and developing countries. Health Law J 2004;12:183-200
  • Rinaldi A. Adopting an orphan. EMBO Rep 2005;6(6):507-10
  • McCabe C, Tsuchiya A, Claxton K, Raftery J. Orphan drugs revisited. QJM 2006;99(5):341-5
  • Haffner ME, Whitley J, Moses M. Two decades of orphan product development. Nat Rev Drug Discov 2002;1(10):821-5
  • Fentiman IS, Fourquet A, Hortobagyi GN. Male breast cancer. Lancet 2006;367(9510):595-604
  • Salvadori B, Saccozzi R, Manzari A, et al. Prognosis of breast cancer in males: an analysis of 170 cases. Eur J Cancer 1994;30A:930-5
  • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958;53(282):457-81
  • Simonneau G, Galiè N, Rubin LJ, et al. Clinical classification of pulmonary hypertension. J Am Coll Cardiol 2004;43(12 Suppl S):5S-12S
  • Buckley BM. Clinical trials of orphan medicines. Lancet 2008;371(9629):2051-5
  • Drummond MF, Wilson DA, Kanavos P, et al. Assessing the economic challenges posed by orphan drugs. Int J Technol Assess Health Care 2007;23(1):36-42
  • Griggs RC, Batshaw M, Dunkle M, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 2009;96(1):20-6
  • Kesselheim AS, Myers JA, Avorn J. Characteristics of clinical trials to support approval of orphan vs nonorphan drugs for cancer. J Am Med Assoc 2011;305(22):2320-6
  • Paul SM, Mytelka DS, Dunwiddie CT, et al. How to improve R&D productivity: the pharmaceutical industry’s grand challenge. Nat Rev Drug Discov 2010;9:203-14
  • Lim DS, Kim ST, Xu B, et al. ATM Phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 2000;404(6778):613-17
  • Rioux JD, Daly MJ, Silverberg MS, et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001;29(2):223-8
  • Marckmann P, Skov L, Rossen K, et al. Nephrogenic systemic fibrosis: suspected causative role of gadodiamide used for contrast-enhanced magnetic resonance imaging. J Am Soc Nephrol 2006;17(9):2359-62
  • Simonneau G, Robbins IM, Beghetti M, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009;54(1 Suppl):S43-54
  • Bertram L, Lill CM, Tanzi RE. The genetics of Alzheimer disease: back to the future. Neuron 2010;68(2):270-81
  • Antzelevitch C, Brugada P, Borggrefe M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111(5):659-70
  • Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2000;1(3):182-90
  • Kerr GS, Hallahan CW, Giordano J, et al. Takayasu arteritis. Ann Intern Med 1994;120(11):919-29
  • Humbert M, Sitbon O, Chaouat A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 2006;173(9):1023-30
  • Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992;20(6):1391-6
  • D’Alonzo GE, Barst RJ, Ayres SM, et al. Survival in patients with primary pulmonary hypertension. Results from a national prospective registry. Ann Intern Med 1991;115(5):343-9
  • Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997;15(2):186-9
  • Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 2001;411(6837):599-603
  • Zhao S, Weng YC, Yuan SS, et al. Functional link between ataxia-telangiectasia and nijmegen breakage syndrome gene products. Nature 2000;405(6785):473-7
  • Gatei M, Young D, Cerosaletti KM, et al. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 2000;25(1):115-19
  • Wu X, Ranganathan V, Weisman DS, et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 2000;405(6785):477-82
  • Carney JP, Maser RS, Olivares H, et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998;93(3):477-86
  • Kastan MB, Lim DS. The many substrates and functions of ATM. Nat Rev Mol Cell Biol 2000;1(3):179-86
  • Zheng L, Li S, Boyer TG, Lee WH. Lessons learned from BRCA1 and BRCA2. Oncogene 2000;19(53):6159-75
  • Shiloh Y. ATM: sounding the double-strand break alarm. Cold Spring Harb Symp Quant Biol 2000;65:527-33
  • Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273(5281):1516-17
  • Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81(3):559-75
  • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21(2):263-5
  • Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001;409(6822):860-921
  • Jorde LB. Linkage disequilibrium and the search for complex disease genes. Genome Res 2000;10(10):1435-44
  • Jorde LB, Watkins WS, Kere J, et al. Gene mapping in isolated populations: new roles for old friends? Hum Hered 2000;50(1):57-65
  • Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000;405(6788):847-6
  • Terwilliger JD, Göring HH. Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum Biol 2000;72(1):63
  • Rubin LJ, Badesch DB, Barst RJ, et al. Bosentan therapy for pulmonary arterial hypertension. N Engl J Med 2002;346(12):896-903
  • Barst RJ, Rubin LJ, Long WA, et al. A comparison of continuous intravenous epoprostenol (prostacyclin) with conventional therapy for primary pulmonary hypertension. N Engl J Med 1996;334(5):296-301
  • Rich S, Dantzker DR, Ayres SM, et al. Primary pulmonary hypertension. A national prospective study. Ann Intern Med 1987;107(2):216-23
  • Channick RN, Simonneau G, Sitbon O, et al. Effects of the dual endothelin-receptor antagonist bosentan in patients with pulmonary hypertension: a randomised placebo-controlled study. Lancet 2001;358(9288):1119-23
  • Anderson JR, Nawarskas JJ. Pharmacotherapeutic management of pulmonary arterial hypertension. Cardiol Rev 2010;18(3):148-62
  • Girgis RE. Emerging drugs for pulmonary hypertension. Expert Opin Emerg Drugs 2010;15(1):71-85
  • Galiè N, Palazzini M, Leci E, Manes A. Current therapeutic approaches to pulmonary arterial hypertension. Rev Esp Cardiol 2010;63(6):708-24
  • Burt C, Pepke-Zaba J, Falter F. Pulmonary arterial hypertension. Curr Vasc Pharmacol 2010;8(3):412-20
  • Reis A, Rocha N, Barros R, et al. Guidelines for the management of pulmonary hypertension patients. Rev Port Cardiol 2010;29(2):253-89
  • Zhou BB, Elledge SJ. The DNA damage response: putting checkpoints in perspective. Nature 2000;408:433-9, DOI:10.1038/35044005
  • Schultz LB. p53 binding protein 1 (53bp1) is an early participant in the cellular response to DNA double-strand breaks. J Cell Biol 2000;151:1381-90, DOI:10.1083/jcb.151.7.1381

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.