The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Autor: Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R.

Publikováno v: Orphanet journal of rare diseases, 16(1):142. BioMed Central
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 16, 1

Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51c1f1b7c050a66d7033dd369699172
https://www.repository.cam.ac.uk/handle/1810/322429

Incidence of Retinoblastoma Has Increased: Results from 40 European Countries

Autor: Stacey AW, Bowman R, Foster A, Kivelä TT, Munier FL, Cassoux N, Fabian ID, Al Harby L, Alarcón Portabella S, Alia DB, All-Eriksson C, Antonino R, Astbury NJ, Balaguer J, Balwierz W, Barranco H, Bascaran C, Beck Popovic M, Biewald EM, Bobrova N, Bornfeld N, Brichard BG, Blum S, Capra M, Castela G, Catala J, Chantada G, Chernodrinska VS, Cieslik K, Comsa C, Correa Llano MG, Csóka M, De Potter P, Desjardins L, Dragomir MD, Fernández-Teijeiro A, García Aldana D, Gregersen PA, Gomel N, Hadjistilianou T, Hederova S, Hummlen M, Husakova K, Ida R, Ilic VR, Jenkinson H, Kapelushnik N, Kardava T, Keren-Froim N, Kepak T, Khotenashvili Z, Klett A, Krivaitiene D, Latinovic S, Lumbroso L, Lysytsia L, Maka E, Martín Begue N, Midena E, Moll AC, Murgoi G, Naumenko L, Neroev V, Nikitovic M, Olechowski A, Papyan R, Parrozzani R, Parulekar MV, Pawinska-Wasikowska K, Peric S, Pochop P, Polyakov VG, Reddy MA, Ritter-Sovinz P, Saakyan S, Sagoo MS, San Román Pacheco S, Seregard S, Silva S, Sorochynska T, Stathopoulos C, Stirn Kranjc B, Svojgr K, Tamamyan G, Tandili A, Tateshi B, Tekavcic Pompe M, Urbak SF, Ushakova TL, Valeina S, van Hoefen Wijsard M, Veleva-Krasteva NV, Viksnins M, Wackernagel W, Wolley Dod C, Yarovaya VA, Yarovoy AA, Zhilyaeva K, Zondervan M, Global Retinoblastoma Study Group

Publikováno v: Ophthalmology
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a8377b4f24030141d8cf6658ae9fa5b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18896

An ontological foundation for ocular phenotypes and rare eye diseases

Autor: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.

Publikováno v: ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6

Background The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840fa6905fa94a0e7ca88a0762068559
https://doi.org/10.1186/s13023-018-0980-6

Inventory of current EU paediatric vision and hearing screening programmes

Autor: Sloot, F. Hoeve, H.L.J. de Kroon, M.L.A. Goedegebure, A. Carlton, J. Griffiths, H.J. Simonsz, H.J. Langmann, A. Lindner, S. Gaugl, H. ten Tusscher, M. Guérin, C. Hoppenbrouwers, K. van Lammeren, M. Boelaert, K. Godts, D. Paris, V. Bauwens, A. Stateva, D. Petrinovic-Doresic, J. Bjelos, M. Novak-Stroligo, M. Alpeza-Dunato, Z. Gavrielides Michaeloudes, M. Dostálek, M. Zobanova, A. Jerabkova, A. Hesgaard, H. Welinder, L.G. Sandfeld, L. Larsen, S. Levin, M. Klett, A. Somma, K. Ismagilova, S. Hyvärinen, L. Thouvenin, D. Coursager, K. Elflein, H. Pitz, S. Lenk-Schaefer, M. Van-Waveren, M. Ziakas, N.G. Polychroniadis Scouros, S. Knezy, K. Nemeth, J. Soproni, A. Facskó, A. Berkes, S. Gudmundsdottir, E. McCreery, K. Morad, Y. Ancri, O. Nucci, P. Serafino, M. Lembo, A. Bottin, D. Valeina, S. Misevice, A. Asoklis, R.S. Planata-Bogdan, B. Francalanza, M. Sjoerdsma, T. van Rijn, R. Osnes-Ringen, O. Moe, M. Bakunowicz-Lazarczyk, A. Reich-d’Almeida, F. Marques Neves, C. Reich d’Almeida, I. Oliveira, M. Vladutiu, C. Stankovic, B. Djokić, V. Gerinec, A. Stirn Kranjc, B. Gomez-de-Liano Sanchez, R. Rajmil, L. Prats, B. Nilsson, J. Flodin, S. Landau, K. Sturm, V. Zuber, C. Glauser, V. Atilla, H. Horwood, A.M. Williams, C. Shea, S. Griffiths, H. Carlton, J. Qirjazi, B. Gugatschka, M. Stappaerts, L. Vos, B. Milkov, M. Velepic, M. Thodi, C. Syka, J. Ovesen, T. Luht, L. Niemensivu, R. Aarnisalo, A. Denoyelle, F. Keilmann, A. Neumann, K. Nikolopoulos, T. Beke, Z. Hinriksdóttir, I. O’Connor, A. Rubin, L. Trevisi, P. Martini, A. Grandori, F. Kuške, S. Lesinskas, E. Hild, J.M. Fenech, A. Chiaburu, A. Jovicevic, O. Nordfalk, K. Medbø, S. Szyfter, W. Greczka, G. Monteiro, L. Georgescu, M. Filipovic, S.A. Pavlovcinova, G. Profant, M. Battelino, S. Boletezar, I.H. Núñez-Batalla, F. Javier Cervera, O. Uhlén, I. Veraguth, D. Atilla, H. Carr, G. Davis, A. Bruderer, A. Sirimanna, T. Qirjazi, B. Roshi, E. Hoppenbrouwers, K. Guérin, C. Georgieva, L. Rukavina, T. Bourek, A. Hietanen-Peltola, M. Jégat, C. Ottová-Jordan, V. Polychroniadis Scouros, S. Kovacs, A. Jónsdóttir, L.S. Morad, Y. Grotto, I. Farrugia, S.V. Memeti, S. Mugosa, B. Raat, H. Gaspar, T. Zivkovic, S.M. Juricic, M. Rajmil, L. Hjern, A. Atilla, H. Dahlmann-Noor, A. Gouder, M.J. Jovovic, N. Pojuzina, N. EUS€REEN study group

Objective: To examine the diversity in paediatric vision and hearing screening programmes in Europe. Methods: Themes for comparison of screening programmes derived from literature were used to compile three questionnaires on vision, hearing, and publ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::5f26d0dd4ca43b2ff1591af40b252f39
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3110042

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