A novel mutation in CNNM4 (G492C) associated with Jalili Syndrome

Autor: Christophe Valmaggia, Daniel F. Schorderet, L.T. Lopez Torres, M. G. Todorova

Publikováno v: Acta Ophthalmologica. 93

Purpose To describe a new G492C homozygous mutation in a consanguineous family from Saudi Arabia with autosomal recessive cone-rod dystrophy (arCRD) associated with amelogenesis imperfecta and mental deficiency (Jalili syndrome). Methods Both parents

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d0b76bda1c5f70d86d6df90245b4d4bf
https://doi.org/10.1111/j.1755-3768.2015.0606

Schlaglicht Augenheilkunde: Glaukom

Autor: A. El-Rafei, E. M. Hoffmann, K. Birke, C. Schultze, U. Schlötzer-Schrehardt, F. Schroedl, G. I. W Duncker, A. J. Augustin, C. Runge, B. Wilhelm, S. Fänkl, R. Widder, M. Klemm, K.-P. Schmitz, J. M. Selbach, T. Engelhorn, Y. Guex-Crosier, M. Neuburger, K. Gugleta, G. Eckert, S. Kupferschmid, A. Hommer, J. M. Rohrbach, F. H. Grus, V. Kriegeskorte, K. Sternberg, A. Trost, C. G. Meltendorf, H.-G. Predel, U. Weber, C. Y. Mardin, A. Polunina, W. Radner, R. O. Burk, M. Ghanem, C. M. Jass, N. Körber, T. Schlote, A. M. Schild, J. Hornegger, A. Oettli, J. W. Kiel, S. Orgül, S. Kremmer, C. Nischler, A. G. Böhm, J. Funk, A. Dörfler, U. Hinze, K. D. Lemmen, T. S. Dietlein, A. Rosentreter, R. Allemann, M. Niegel, C. Gesser, G. Michelson, J. Flammer, G. Anastassiou, H. A. Reitsamer, K. Skorkovska, S. Grisanti, D. Böhringer, B. N. Chichkov, N. F. K Winkler, Carl Erb, R. Guthoff, O. Schwenn, M. G. Todorova, J. F. Jordan, F. Rüfer, W. Schmidt, U.-C. Welge-Lüßen, K. Konieczka, S. Wärntges, A. L. Yu, M. Pache, K. Göbel, A. Kochkorov, E. K. Reinthal, B. Bogner, C. Strohmaier, H. Wilhelm, M. Eichhorn, D. Uthoff, C. Jonescu-Cuypers, A. Cybulska-Heinrich, M. Löbler, H. Lüdke, G. M. Emmerich, O. Stachs, P. B. Henrich, M. Mozaffarieh

Publikováno v: Schlaglicht Augenheilkunde: Glaukom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52acb0a0529fa371df8d334164c28337
https://doi.org/10.1055/b-003-104353

Optic disc hamartomas in a family with heterozygous mutation in the VMD2 gene: Clinical, diagnostic and molecular genetic findings

Autor: Df Schorderet, M. G. Todorova, Christophe Valmaggia

Publikováno v: Acta Ophthalmologica. 91

Purpose To report a new form of juvenile-onset Best disease associated with optic disc deposits and autosomal dominant inheritance in a three-generation family. Methods Five affected individuals aged from 5 to 76 years were assessed. Detailed ophthal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::90014848b75b62d19eb6a5b6c5781607
https://doi.org/10.1111/j.1755-3768.2013.1665.x

Can cytology differentiate Norrie's disease from Retinoblastoma?

Autor: Josef Flammer, M. G. Todorova, Lukas Bubendorf, Peter Meyer, Christian Prünte

Publikováno v: Acta Ophthalmologica. 88

Purpose Objective: To describe the cytology characteristics in a case of Norrie’s disease. Methods This is a retrospective case report of a 3-weeks-old boy. Diagnosis was based on findings at the initial and follow-up examinations, cytology of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d5b69d2a6ffec56596feef74b16712b5
https://doi.org/10.1111/j.1755-3768.2010.2442.x

[Unilateral nocturnal glare sensitivity and photopsias]

Autor: M G, Todorova, A M, Palmowski-Wolfe, D, Leifert, C, Prünte, P, Meyer

Publikováno v: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. 103(6)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a1c541c363b683c227c7daafdc5174fd
https://pubmed.ncbi.nlm.nih.gov/16170520