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Autor: C. Cassiman, I. Casteels, V. Walgrave

Publikováno v: Tijdschrift voor Geneeskunde.

Amblyopia: is patching outdated? Amblyopia is a reduced visual acuity resulting from insufficient visual stimulation during the first years of life. Standard treatment is occlusion therapy, in which the better eye is patched to stimulate the amblyopi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa3fbc6be6c75c535002d3feb739d627
https://doi.org/10.47671/tvg.77.21.126

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Autor: Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues

Publikováno v: Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins

PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdf

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Genetics in primary congenital glaucoma: Implications in disease management and counseling

Autor: Irina Balikova, S. Vermeer, L. Leysen, Ingele Casteels, C. Cassiman

Publikováno v: European journal of medical genetics. 65(1)

Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b8ebb237ae714c1327dbe17d6ad848
https://pubmed.ncbi.nlm.nih.gov/34748994

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Akademický článek

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Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Autor: C, Cassiman, I, Casteels, J, Jacob, E, Plasschaert, H, Brems, K, Dubron, K V, Keer, E, Legius

Publikováno v: Clinical genetics. 91(4)

The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ccdd878a1315eba5ab1ebef7ebe4fae3
https://pubmed.ncbi.nlm.nih.gov/27716896

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