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Items: 1 to 20 of 109

1.

A model for the European platform for rare disease registries.

Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D.

Public Health Genomics. 2013;16(6):299-304. doi: 10.1159/000355935. Epub 2014 Feb 3.

PMID:
24503590
2.

National registries of rare diseases in Europe: an overview of the current situation and experiences.

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H.

Public Health Genomics. 2015;18(1):20-5. doi: 10.1159/000365897. Epub 2014 Sep 9.

PMID:
25228300
3.

The current situation and needs of rare disease registries in Europe.

Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, Posada M.

Public Health Genomics. 2013;16(6):288-98. doi: 10.1159/000355934. Epub 2014 Feb 3.

PMID:
24503589
4.

A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration.

Kinsner-Ovaskainen A, Lanzoni M, Garne E, Loane M, Morris J, Neville A, Nicholl C, Rankin J, Rissmann A, Tucker D, Martin S.

Eur J Med Genet. 2018 Sep;61(9):513-517. doi: 10.1016/j.ejmg.2018.03.008. Epub 2018 Mar 27. Review.

6.

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration.

Taruscio D, Mollo E, Gainotti S, Posada de la Paz M, Bianchi F, Vittozzi L.

Arch Public Health. 2014 Oct 13;72(1):35. doi: 10.1186/2049-3258-72-35. eCollection 2014.

7.

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).

Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J.

Contemp Clin Trials. 2010 Sep;31(5):394-404. doi: 10.1016/j.cct.2010.06.007. Epub 2010 Jul 8.

8.

The challenge for a European network of biobanks for rare diseases taken up by RD-Connect.

Monaco L, Crimi M, Wang CM.

Pathobiology. 2014;81(5-6):231-6. doi: 10.1159/000358492. Epub 2015 Mar 16. Review.

9.

Networking for rare diseases: a necessity for Europe.

Aymé S, Schmidtke J.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1477-83. Review.

PMID:
18026888
10.

Rare disease registries classification and characterization: a data mining approach.

Santoro M, Coi A, Lipucci Di Paola M, Bianucci AM, Gainotti S, Mollo E, Taruscio D, Vittozzi L, Bianchi F.

Public Health Genomics. 2015;18(2):113-22. doi: 10.1159/000369993. Epub 2015 Feb 7.

PMID:
25677717
11.

Rare disease registries: a call to action.

Lacaze P, Millis N, Fookes M, Zurynski Y, Jaffe A, Bellgard M, Winship I, McNeil J, Bittles AH.

Intern Med J. 2017 Sep;47(9):1075-1079. doi: 10.1111/imj.13528.

PMID:
28891182
12.

Data Quality in Rare Diseases Registries.

Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D.

Adv Exp Med Biol. 2017;1031:149-164. doi: 10.1007/978-3-319-67144-4_8. Review.

PMID:
29214570
13.

The value of a European registry for pituitary adenomas: the example of Cushing's syndrome registry.

Webb SM, Santos A, Valassi E.

Ann Endocrinol (Paris). 2012 Apr;73(2):83-9. doi: 10.1016/j.ando.2012.03.035. Epub 2012 Apr 25. Review.

PMID:
22541996
14.

The Quality of Rare Disease Registries: Evaluation and Characterization.

Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F.

Public Health Genomics. 2016;19(2):108-15. doi: 10.1159/000444476. Epub 2016 Mar 22.

PMID:
26998603
15.

The European Narcolepsy Network (EU-NN) database.

Khatami R, Luca G, Baumann CR, Bassetti CL, Bruni O, Canellas F, Dauvilliers Y, Del Rio-Villegas R, Feketeova E, Ferri R, Geisler P, Högl B, Jennum P, Kornum BR, Lecendreux M, Martins-da-Silva A, Mathis J, Mayer G, Paiva T, Partinen M, Peraita-Adrados R, Plazzi G, Santamaria J, Sonka K, Riha R, Tafti M, Wierzbicka A, Young P, Lammers GJ, Overeem S; European Narcolepsy Network.

J Sleep Res. 2016 Jun;25(3):356-64. doi: 10.1111/jsr.12374. Epub 2016 Jan 26.

16.

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H.

J Gen Intern Med. 2014 Aug;29 Suppl 3:S780-7. doi: 10.1007/s11606-014-2908-8. Review.

17.

Public health research on rare diseases.

Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M.

Georgian Med News. 2011 Apr;(193):11-6.

PMID:
21617266
18.

Rare Diseases in Europe: from a Wide to a Local Perspective.

Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D.

Isr Med Assoc J. 2016 Jun;18(6):359-63. Review.

19.

EUROCOURSE recipe for cancer surveillance by visible population-based cancer RegisTrees in Europe: From roots to fruits.

Coebergh JW, van den Hurk C, Louwman M, Comber H, Rosso S, Zanetti R, Sacchetto L, Storm H, van Veen EB, Siesling S, van den Eijnden-van Raaij J.

Eur J Cancer. 2015 Jun;51(9):1050-63. doi: 10.1016/j.ejca.2015.02.017. Epub 2015 Apr 29.

PMID:
25934439
20.

[Registries for rare diseases : OSSE - An open-source framework for technical implementation].

Storf H, Schaaf J, Kadioglu D, Göbel J, Wagner TOF, Ückert F.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):523-531. doi: 10.1007/s00103-017-2536-7. German.

PMID:
28289778

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