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Items: 1 to 20 of 44

1.

Dealing with Uncertainty and Accounting for Social Value Judgments in Assessments of Orphan Drugs: Evidence from Four European Countries.

Nicod E, Berg Brigham K, Durand-Zaleski I, Kanavos P.

Value Health. 2017 Jul - Aug;20(7):919-926. doi: 10.1016/j.jval.2017.03.005. Epub 2017 May 3.

PMID:
28712621
2.

Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report.

Benjamin K, Vernon MK, Patrick DL, Perfetto E, Nestler-Parr S, Burke L.

Value Health. 2017 Jul - Aug;20(7):838-855. doi: 10.1016/j.jval.2017.05.015.

PMID:
28712612
3.

A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.

Greene D; NIHR BioResource, Richardson S, Turro E.

Am J Hum Genet. 2017 Jul 6;101(1):104-114. doi: 10.1016/j.ajhg.2017.05.015. Epub 2017 Jun 29.

4.

Human lagochilascariasis-A rare helminthic disease.

Campos DMB, Barbosa AP, Oliveira JA, Tavares GG, Cravo PVL, Ostermayer AL.

PLoS Negl Trop Dis. 2017 Jun 22;11(6):e0005510. doi: 10.1371/journal.pntd.0005510. eCollection 2017 Jun. Review.

5.

Pharmaceutical Marketing for Rare Diseases: Regulating Drug Company Promotion in an Era of Unprecedented Advertisement.

Mailankody S, Prasad V.

JAMA. 2017 Jun 27;317(24):2479-2480. doi: 10.1001/jama.2017.5784. No abstract available.

PMID:
28520871
6.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

7.

Bacterial Osteomyelitis or Nonbacterial Osteitis in Children: A Study Involving the German Surveillance Unit for Rare Diseases in Childhood.

Grote V, Silier CC, Voit AM, Jansson AF.

Pediatr Infect Dis J. 2017 May;36(5):451-456. doi: 10.1097/INF.0000000000001469.

PMID:
28403046
8.

Improving treatment results with reference centres for rare cancers: where do we stand?

Ray-Coquard I, Pujade Lauraine E, Le Cesne A, Pautier P, Vacher Lavenue MC, Trama A, Casali P, Coindre JM, Blay JY.

Eur J Cancer. 2017 May;77:90-98. doi: 10.1016/j.ejca.2017.02.006. Epub 2017 Apr 3. Review.

PMID:
28384534
9.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
10.

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE.

Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7.

11.

Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations.

Lopes FL, Hou L, Boldt AB, Kassem L, Alves VM, Nardi AE, McMahon FJ.

Hum Biol. 2016 Apr;88(2):109-120.

PMID:
28162000
12.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

13.

Turning the Unknown into Known: Data Mining Is Increasingly Used to Prospect for Rare-Disease Biology and Treatments.

Mertz L.

IEEE Pulse. 2017 Jan-Feb;8(1):28-32. doi: 10.1109/MPUL.2016.2627459.

PMID:
28129139
14.

The Pediatric Research Equity Act Moves Into Adolescence.

Bourgeois FT, Hwang TJ.

JAMA. 2017 Jan 17;317(3):259-260. doi: 10.1001/jama.2016.18131. No abstract available.

PMID:
28114560
15.

Rare Diseases on the Internet: An Assessment of the Quality of Online Information.

Pauer F, Litzkendorf S, Göbel J, Storf H, Zeidler J, Graf von der Schulenburg JM.

J Med Internet Res. 2017 Jan 18;19(1):e23. doi: 10.2196/jmir.7056.

16.

The ethical framework for performing research with rare inherited neurometabolic disease patients.

Giannuzzi V, Devlieger H, Margari L, Odlind VL, Ragab L, Bellettato CM, D'Avanzo F, Lampe C, Cassis L, Cortès-Saladelafont E, Cazorla ÁG, Barić I, Cvitanović-Šojat L, Fumić K, Dali CI, Bartoloni F, Bonifazi F, Scarpa M, Ceci A.

Eur J Pediatr. 2017 Mar;176(3):395-405. doi: 10.1007/s00431-017-2852-9. Epub 2017 Jan 16. Review.

17.

How the EUCERD Joint Action supported initiatives on Rare Diseases.

Lynn S, Hedley V, Atalaia A, Evangelista T, Bushby K; EUCERD Joint Action.

Eur J Med Genet. 2017 Mar;60(3):185-189. doi: 10.1016/j.ejmg.2017.01.002. Epub 2017 Jan 10. Review.

PMID:
28087401
18.

What Is the Purpose of the Orphan Drug Act?

Herder M.

PLoS Med. 2017 Jan 3;14(1):e1002191. doi: 10.1371/journal.pmed.1002191. eCollection 2017 Jan.

19.

PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL.

Miller PA, Mulla SM, Adams-Webber T, Sivji Y, Guyatt GH, Johnston BC.

Int J Technol Assess Health Care. 2016 Jan;32(6):393-399. doi: 10.1017/S0266462316000568. Epub 2016 Dec 28.

PMID:
28029334
20.

Incidence and Clinical Features of Rare Cutaneous Malignancies in Olmsted County, Minnesota, 2000 to 2010.

Tolkachjov SN, Schmitt AR, Muzic JG, Weaver AL, Baum CL.

Dermatol Surg. 2017 Jan;43(1):116-124. doi: 10.1097/DSS.0000000000000936.

PMID:
28027201

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