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Items: 1 to 20 of 27

1.

SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network, Posada M.

Int J Environ Res Public Health. 2018 Aug 14;15(8). pii: E1746. doi: 10.3390/ijerph15081746.

2.

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.

Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B.

Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC.

PMID:
29232161
3.

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL.

Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29.

4.

Early Detection and Intervention of ASD: A European Overview.

Magán-Maganto M, Bejarano-Martín Á, Fernández-Alvarez C, Narzisi A, García-Primo P, Kawa R, Posada M, Canal-Bedia R.

Brain Sci. 2017 Dec 1;7(12). pii: E159. doi: 10.3390/brainsci7120159.

5.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

6.

Characterization of immune cell phenotypes in adults with autism spectrum disorders.

López-Cacho JM, Gallardo S, Posada M, Aguerri M, Calzada D, Mayayo T, Lahoz C, Cárdaba B.

J Investig Med. 2016 Oct;64(7):1179-85. doi: 10.1136/jim-2016-000070. Epub 2016 Jun 13.

PMID:
27296457
7.

The risk of re-identification versus the need to identify individuals in rare disease research.

Hansson MG, Lochmüller H, Riess O, Schaefer F, Orth M, Rubinstein Y, Molster C, Dawkins H, Taruscio D, Posada M, Woods S.

Eur J Hum Genet. 2016 Nov;24(11):1553-1558. doi: 10.1038/ejhg.2016.52. Epub 2016 May 25.

8.

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.

Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D.

Eur J Hum Genet. 2016 Aug;24(9):1248-54. doi: 10.1038/ejhg.2016.2. Epub 2016 Feb 10.

9.

Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.

Cavero-Carbonell C, Gras-Colomer E, Guaita-Calatrava R, López-Briones C, Amorós R, Abaitua I, Posada M, Zurriaga O.

J Public Health (Oxf). 2016 Jun;38(2):e178-86. doi: 10.1093/pubmed/fdv099. Epub 2015 Aug 19.

PMID:
26294444
10.

Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries.

Castaño A, Cutanda F, Esteban M, Pärt P, Navarro C, Gómez S, Rosado M, López A, López E, Exley K, Schindler BK, Govarts E, Casteleyn L, Kolossa-Gehring M, Fiddicke U, Koch H, Angerer J, Den Hond E, Schoeters G, Sepai O, Horvat M, Knudsen LE, Aerts D, Joas A, Biot P, Joas R, Jiménez-Guerrero JA, Diaz G, Pirard C, Katsonouri A, Cerna M, Gutleb AC, Ligocka D, Reis FM, Berglund M, Lupsa IR, Halzlová K, Charlier C, Cullen E, Hadjipanayis A, Krsková A, Jensen JF, Nielsen JK, Schwedler G, Wilhelm M, Rudnai P, Középesy S, Davidson F, Fischer ME, Janasik B, Namorado S, Gurzau AE, Jajcaj M, Mazej D, Tratnik JS, Larsson K, Lehmann A, Crettaz P, Lavranos G, Posada M.

Environ Res. 2015 Aug;141:58-68. doi: 10.1016/j.envres.2014.10.029. Epub 2015 Feb 7.

11.

Population-based multicase-control study in common tumors in Spain (MCC-Spain): rationale and study design.

Castaño-Vinyals G, Aragonés N, Pérez-Gómez B, Martín V, Llorca J, Moreno V, Altzibar JM, Ardanaz E, de Sanjosé S, Jiménez-Moleón JJ, Tardón A, Alguacil J, Peiró R, Marcos-Gragera R, Navarro C, Pollán M, Kogevinas M; MCC-Spain Study Group.

Gac Sanit. 2015 Jul-Aug;29(4):308-15. doi: 10.1016/j.gaceta.2014.12.003. Epub 2015 Jan 19. Erratum in: Gac Sanit. 2018 Sep - Oct;32(5):501.

12.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.

Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

13.

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Lara B, Martínez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martínez-Delgado B.

Respir Res. 2014 Oct 7;15:125. doi: 10.1186/s12931-014-0125-y.

14.

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
15.

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.

16.

Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease.

López-Cacho JM, Gallardo S, Posada M, Aguerri M, Calzada D, Mayayo T, González-Rodríguez ML, Rabasco AM, Lahoz C, Cárdaba B.

Biomed Res Int. 2014;2014:148293. doi: 10.1155/2014/148293. Epub 2014 Apr 10.

17.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
18.

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study.

Linertová R, Serrano-Aguilar P, Posada-de-la-Paz M, Hens-Pérez M, Kanavos P, Taruscio D, Schieppati A, Stefanov R, Péntek M, Delgado C, von der Schulenburg JM, Persson U, Chevreul K, Fattore G, Worbes-Cerezo M, Sefton M, López-Bastida J; BURQOL-RD Research Group.

Health Policy. 2012 Nov;108(1):19-26. doi: 10.1016/j.healthpol.2012.08.001. Epub 2012 Sep 2.

PMID:
22947412
19.

The need for worldwide policy and action plans for rare diseases.

Forman J, Taruscio D, Llera VA, Barrera LA, Coté TR, Edfjäll C, Gavhed D, Haffner ME, Nishimura Y, Posada M, Tambuyzer E, Groft SC, Henter JI; International Conference for Rare Diseases and Orphan Drugs (ICORD).

Acta Paediatr. 2012 Aug;101(8):805-7. doi: 10.1111/j.1651-2227.2012.02705.x. Epub 2012 May 11.

20.

Health impact assessment of environmental tobacco smoke in European children: sudden infant death syndrome and asthma episodes.

Boldo E, Medina S, Oberg M, Puklová V, Mekel O, Patja K, Dalbokova D, Krzyzanowski M, Posada M.

Public Health Rep. 2010 May-Jun;125(3):478-87. No abstract available.

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