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

Point mutations affecting the tyrosine kinase domain of the RET proto-oo-oncogene in Hirschsprung patients

Autor: Romeo, G, Ronchetto, P, Yin, L, Barone, V, Seri, M, Ceccherini, I, Pasini, Barbara, Bocciardi, R, Lerone, M, Kaariainen, H, Martucciello, G.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______970::8ee143d4a1cc457d37b96f4a38c213f2
http://hdl.handle.net/2318/113768

A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10

Autor: Lyonnet, S., Bolino, A., Pelet, A., ABEL L, L., Nihoulfekete, C., Briard, M. L., Moksiu, V., Kaariainen, H., Martucciello, Giuseppe, Lerone, M., Puliti, Aldamaria, LUO WEISSENBACH J, Y., Devoto, M, Munnich, A, Romeo, G.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::d731e59a2b1885456f89c9266a13a558
https://hdl.handle.net/11567/248634

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