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Items: 1 to 20 of 118

1.

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
2.

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
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
5.

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.

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
7.

EUROPLAN: a project to support the development of national plans on rare diseases in Europe.

Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E.

Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3.

PMID:
24503588
8.

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.

9.

The European union policy in the field of rare diseases.

Montserrat Moliner A, Waligóra J.

Public Health Genomics. 2013;16(6):268-77. doi: 10.1159/000355930. Epub 2014 Feb 3.

PMID:
24503587
10.

The European Union Policy in the Field of Rare Diseases.

Moliner AM, Waligora J.

Adv Exp Med Biol. 2017;1031:561-587. doi: 10.1007/978-3-319-67144-4_30.

PMID:
29214592
11.

Networking for rare diseases: a necessity for Europe.

Aymé S, Schmidtke J.

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

PMID:
18026888
12.

Registration of childhood cancer: Moving towards pan-European coverage?

Steliarova-Foucher E, Stiller C, Colombet M, Kaatsch P, Zanetti R, Peris-Bonet R.

Eur J Cancer. 2015 Jun;51(9):1064-79. doi: 10.1016/j.ejca.2015.03.009. Epub 2015 Apr 17.

PMID:
25899984
13.

National plans and strategies on rare diseases in Europe.

Taruscio D, Vittozzi L, Stefanov R.

Adv Exp Med Biol. 2010;686:475-91. doi: 10.1007/978-90-481-9485-8_26. Review.

PMID:
20824461
14.

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.

Taruscio D, Floridia G, Salvatore M, Groft SC, Gahl WA.

Adv Exp Med Biol. 2017;1031:25-38. doi: 10.1007/978-3-319-67144-4_2.

PMID:
29214564
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.

Transposition and implementation of EU rare disease policy in Eastern Europe.

Pejcic AV, Iskrov G, Raycheva R, Stefanov R, Jakovljevic MM.

Expert Rev Pharmacoecon Outcomes Res. 2017 Dec;17(6):557-566. doi: 10.1080/14737167.2017.1388741. Epub 2017 Oct 10. Review.

PMID:
28975845
17.

Tackling rare diseases at European level: why do we need a harmonized framework?

Taruscio D, Trama A, Stefanov R.

Folia Med (Plovdiv). 2007;49(1-2):59-67.

PMID:
18018471
18.

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
19.

The making of a pan-European organ transplant registry.

Smits JM, Niesing J, Breidenbach T, Collett D.

Transpl Int. 2013 Mar;26(3):307-14. doi: 10.1111/tri.12041. Epub 2012 Dec 31.

20.

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

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