Items where Division is "Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik" and Year is 2005

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Number of items: 11.

E

Elflein, H. M. and Lorenz, B. (2005) Acute severe retinopathy of prematurity (ROP) in VLBW twin sisters: Anterior and posterior segment findings as seen with serial digital wide field imaging. In: Meeting of the Association for Research in Vision and Ophthalmology (ARVO 2005), May 01-05, 2005, Ft Lauderdale, FL.

F

Fasser, C. and Preising, M. N. and Lorenz, B. (2005) Retina International's Scientific Newsletter (RISN) - A web resource for genetics of retinal disorders. In: Meeting of the Association for Research in Vision and Ophthalmology (ARVO 2005), May 01-05, 2005, Ft Lauderdale, FL.

H

Hoffmann, Michael B. and Lorenz, Birgit and Morland, Anthony B. and Schmidtborn, Linda C. (2005) Misrouting of the optic nerves in albinism: Estimation of the extent with visual evoked potentials. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 46 (10). pp. 3892-3898. ISSN 0146-0404

K

Kohl, Susanne and Varsanyi, B. and Antunes, G. A and Baumann, B. and Hoyng, C. B. and Jagle, H. and Rosenberg, T. and Kellner, U. and Lorenz, Birgit and Salati, R. and Jurklies, B. and Farkas, A. and Andreasson, S. and Weleber, R. G. and Jacobson, S. G. and Rudolph, G. and Castellan, C. and Dollfus, H. and Legius, E. and Anastasi, M. and Bitoun, P. and Lev, D. and Sieving, P. A. and Munier, F. L. and Zrenner, E. and Sharpe, L. T. and Cremers, F. P..M. and Wissinger, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. EUROPEAN JOURNAL OF HUMAN GENETICS, 13 (3). pp. 302-308. ISSN 1018-4813

L

Lorenz, Birgit and Preising, Markus N. (2005) Best's disease. Overview of pathology and its causes. OPHTHALMOLOGE, 102 (2). pp. 111-115. ISSN 0941-293X

P

Poloschek, Charlotte M. and Fowler, B. and Unsold, R. and Lorenz, Birgit (2005) Disturbed visual system function in methionine synthase deficiency. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 243 (5). pp. 497-500. ISSN 0721-832X

R

Ragge, N.K and Brown, A. G. and Poloschek, Charlotte M. and Lorenz, Birgit and Henderson, R.A. and Clarke, M. P. and Russell-Eggitt, I. and Fielder, A. and Gerrelli, D. and Martinez-Barbera, J. P. and Ruddle, P. and Hurst, J. and Collin, J. R. O. and Salt, A. and Cooper, S. T. and Thompson, P. J. and Sisodiya, S. M. and Williamson, K. A. and FitzPatrick, D. R. and van Heyningen, V. and Hanson, I.M . (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. AMERICAN JOURNAL OF HUMAN GENETICS, 76 (6). pp. 1008-1022. ISSN 0002-9297, 1537-6605

T

Tasse, C. and Bohringer, S. and Fischer, S. and Luedecke, H.J. and Albrecht, B. and Horn, D and Janecke, A. and Kling, R. and Konig, R. and Lorenz, Birgit and Majewski, F. and Maeyens, E. and Meinecke, P. and Mitulla, B. and Mohr, C. and Preischl, M. and Umstadt, H. and Kohlhase, J. and Gillessen-Kaesbach, G. and Wieczorek, Dagmar (2005) Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. EUROPEAN JOURNAL OF MEDICAL GENETICS, 48 (4). pp. 397-411. ISSN 1769-7212, 1878-0849

V

van der Spuy, J. and Munro, P. M. G. and Luthert, P. J. and Preising, Markus N. and Bek, T. and Heegaard, S. and Cheetham, M. E. (2005) Predominant rod photoreceptor degeneration in Leber congenital amaurosis. MOLECULAR VISION, 11 (64-65). pp. 542-553. ISSN 1090-0535

W

Wegscheider, E. and Poloschek, C. M. and Preising, M. N. and Lorenz, B. (2005) Fundus autofluorescence in carriers for choroideremia. In: Meeting of the Association for Research in Vision and Ophthalmology (ARVO 2005), May 01-05, 2005, Ft Lauderdale, FL.

Z

Zernant, J. and Kulm, M. and Dharmaraj, S. and den Hollander, A. I. and Perrault, I. and Preising, Markus N. and Lorenz, Birgit and Kaplan, J. and Cremers, F. P. M. and Maumenee, I. and Koenekoop, R. K. and Allikmets, R. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: Detection of modifier alleles. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 46 (9). pp. 3052-3059. ISSN 0146-0404, 1552-5783

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