137 related articles for article (PubMed ID: 37400917)
1. Overview of patients' cohorts in the French National rare disease registry.
Pichon T; Messiaen C; Soussand L; Angin C; Sandrin A; Elarouci N; Jannot AS;
Orphanet J Rare Dis; 2023 Jul; 18(1):176. PubMed ID: 37400917
[TBL] [Abstract][Full Text] [Related]
2. 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Messiaen C; Racine C; Khatim A; Soussand L; Odent S; Lacombe D; Manouvrier S; Edery P; Sigaudy S; Geneviève D; Thauvin-Robinet C; Pasquier L; Petit F; Rossi M; Willems M; Attié-Bitach T; Roux-Levy PH; Demougeot L; Slama LB; Landais P; ; Jannot AS; Binquet C; Sandrin A; Verloes A; Faivre L
Orphanet J Rare Dis; 2021 Aug; 16(1):345. PubMed ID: 34348744
[TBL] [Abstract][Full Text] [Related]
3. A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.
Choquet R; Maaroufi M; de Carrara A; Messiaen C; Luigi E; Landais P
J Am Med Inform Assoc; 2015 Jan; 22(1):76-85. PubMed ID: 25038198
[TBL] [Abstract][Full Text] [Related]
4. Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study.
Friedlander L; Choquet R; Galliani E; de Chalendar M; Messiaen C; Ruel A; Vazquez MP; Berdal A; Alberti C; De La Dure Molla M
Orphanet J Rare Dis; 2017 May; 12(1):94. PubMed ID: 28526043
[TBL] [Abstract][Full Text] [Related]
5. The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease.
Jannot AS; Messiaen C; Khatim A; Pichon T; Sandrin A;
J Am Med Inform Assoc; 2022 Jan; 29(3):553-558. PubMed ID: 34741516
[TBL] [Abstract][Full Text] [Related]
6. The French National Registry of patients with Facioscapulohumeral muscular dystrophy.
Guien C; Blandin G; Lahaut P; Sanson B; Nehal K; Rabarimeriarijaona S; Bernard R; Lévy N; Sacconi S; Béroud C
Orphanet J Rare Dis; 2018 Dec; 13(1):218. PubMed ID: 30514324
[TBL] [Abstract][Full Text] [Related]
7. The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.
Taruscio D; Vittozzi L; Rocchetti A; Torreri P; Ferrari L
Int J Environ Res Public Health; 2018 Jul; 15(7):. PubMed ID: 30002291
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20609392
[TBL] [Abstract][Full Text] [Related]
9. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Nguengang Wakap S; Lambert DM; Olry A; Rodwell C; Gueydan C; Lanneau V; Murphy D; Le Cam Y; Rath A
Eur J Hum Genet; 2020 Feb; 28(2):165-173. PubMed ID: 31527858
[TBL] [Abstract][Full Text] [Related]
10. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M; Dogan C; Daidj F; Eymard B; Puymirat J; Mathieu J; Gagnon C; Katsahian S; ; Hamroun D; Bassez G
Orphanet J Rare Dis; 2019 Jun; 14(1):122. PubMed ID: 31159885
[TBL] [Abstract][Full Text] [Related]
11. RaDiCo, the French national research program on rare disease cohorts.
Amselem S; Gueguen S; Weinbach J; Clement A; Landais P;
Orphanet J Rare Dis; 2021 Oct; 16(1):454. PubMed ID: 34715889
[TBL] [Abstract][Full Text] [Related]
12. The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry.
Mazzucato M; Visonà Dalla Pozza L; Minichiello C; Manea S; Barbieri S; Toto E; Vianello A; Facchin P
Int J Environ Res Public Health; 2018 Oct; 15(10):. PubMed ID: 30309015
[No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 24503590
[TBL] [Abstract][Full Text] [Related]
14. The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry.
Villeneuve L; Passot G; Glehen O; Isaac S; Bibeau F; Rousset P; Gilly FN;
Orphanet J Rare Dis; 2017 Feb; 12(1):37. PubMed ID: 28212684
[TBL] [Abstract][Full Text] [Related]
15. The French FRACTURE database: A way to improve knowledge on management of children with very rare tumors.
Mallebranche C; Reguerre Y; Fresneau B; Andre N; Berger C; Briandet C; Castex MP; Defachelles AS; Faure-Conter C; Lejeune J; Klein S; Leverger G; Marie-Cardine A; Oudot C; Freycon C; Proust S; Roumy M; Thebaud E; Verite C; Lacour B; Orbach D
Pediatr Blood Cancer; 2022 Dec; 69(12):e30003. PubMed ID: 36156381
[TBL] [Abstract][Full Text] [Related]
16. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S; Torreri P; Wang CM; Reihs R; Mueller H; Heslop E; Roos M; Badowska DM; de Paulis F; Kodra Y; Carta C; Martìn EL; Miller VR; Filocamo M; Mora M; Thompson M; Rubinstein Y; Posada de la Paz M; Monaco L; Lochmüller H; Taruscio D
Eur J Hum Genet; 2018 May; 26(5):631-643. PubMed ID: 29396563
[TBL] [Abstract][Full Text] [Related]
17. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Angin C; Mazzucato M; Weber S; Kirch K; Abdel Khalek W; Ali H; Maiella S; Olry A; Jannot AS; Rath A
Orphanet J Rare Dis; 2024 Jan; 19(1):28. PubMed ID: 38280999
[TBL] [Abstract][Full Text] [Related]
18. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Mazzucato M; Pozza LVD; Facchin P; Angin C; Agius F; Cavero-Carbonell C; Corrochano V; Hanusova K; Kirch K; Lambert D; Lucano C; Maiella S; Panzaru M; Rusu C; Weber S; Zurriaga O; Zvolsky M; Rath A
Orphanet J Rare Dis; 2023 Sep; 18(1):267. PubMed ID: 37667299
[TBL] [Abstract][Full Text] [Related]
19. [Current status of the French National Data Repository in the field of Rare Diseases].
Salamanca E
Med Sci (Paris); 2018 May; 34 Hors série n°1():26. PubMed ID: 29911550
[No Abstract] [Full Text] [Related]
20. CEMARA an information system for rare diseases.
Landais P; Messiaen C; Rath A; Le Mignot L; Dufour E; Ben Said M; Jais JP; Toubiana L; Baujat G; Bourdon-Lanoy E; Gérard-Blanluet M; Bodemer C; Salomon R; Aymé S; Le Merrer M; Verloes A;
Stud Health Technol Inform; 2010; 160(Pt 1):481-5. PubMed ID: 20841733
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]