Items where Division is "Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik" and Year is 2002

D

De Baere, E. and Beysen, D. and Oley, C. and De Sutter, P. and Garza, A. and Jonsrud, C. and Koivisto, P. and Leroy, B. and Lorenz, Birgit and Meire, F. and Plomp, A. and Van Maldergern, L. and De Paepe, A. and Cocquet, J. and Fellous, M. and Veitia, R. and Messiaen, L. (2002) Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis. In: 52nd Annual Meeting of the American-Society-of-Human-Genetics, OCT 15-19, 2002, BALTIMORE, MARYLAND.

E

Elflein, H. M. and Lorenz, B. and Preising, M. N. and Pisinger, G. (2002) Telemedicine in acute ROP: A multicenter study using a digital retinal imaging system. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, MAY 05-10, 2002, FT LAUDERDALE, FLORIDA.

G

Gal, A. and von Brederlow, B. and Rudolph, G. and Lorenz, B. and Bolz, H. (2002) Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, MAY 05-10, 2002, FT LAUDERDALE, FLORIDA.

Gerth, Christina and Andrassi-Darida, Monika and Bock, Markus and Preising, Markus N. and Weber, Bernhard H. F. and Lorenz, Birgit (2002) Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 240 (8). pp. 628-638. ISSN 0721-832X

H

Hosemann, W. and Lorenz, B. and Kuehnel, T. and Leder, S. (2002) Interdisciplinary endoscopic outpatient management of connatal dacryocystoceles. LARYNGO-RHINO-OTOLOGIE, 81 (4). pp. 285-288. ISSN 1615-0007

K

Kohl, Susanne and Baumann, Britta and Rosenberg, Thomas and Kellner, Ulrich and Lorenz, Birgit and Vadala, Maria and Jacobson, Samuel G. and Wissinger, Bernd (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. AMERICAN JOURNAL OF HUMAN GENETICS, 71 (2). pp. 422-425. ISSN 0002-9297

L

Lorenz, Birgit and Schroeder, Josef and Reischl, Udo (2002) First evidence of an endogenous Spiroplasma sp infection in humans manifesting as unilateral cataract associated with anterior uveitis in a premature baby. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 240 (5). pp. 348-353. ISSN 0721-832X

P

Preising, M. N. and Rita, S. and Kellner, U. and Rosenberg, T. and Lorenz, B. (2002) Screening of three genes for Lebers Congenital Amaurosis - Novel mutations in AIPL1. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, MAY 05-10, 2002, FT LAUDERDALE, FLORIDA.

S

Schindler, S. and Friedrich, M. and Wagener, H. and Lorenz, B. and Preising, Markus N. (2002) Heterozygous receptor 3 in P250L mutation of fibroblast growth factor a case of isolated craniosynostosis. JOURNAL OF MEDICAL GENETICS, 39 (10). pp. 764-766. ISSN 0022-2593

Sitorus, R. S. and Preising, M. N. and Ardjo, S. M. and Lorenz, B. (2002) CYP1B1 mutations in patients with primary congenital glaucoma. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, MAY 05-10, 2002, FT LAUDERDALE, FLORIDA.

V

von Brederlow, Benigna and Bolz, Hanno and Janecke, Andreas and Cabrera, Alicia La O. and Rudolph, Günther and Lorenz, Birgit and Schwinger, Eberhard and Gal, Andreas (2002) Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. HUMAN MUTATION, 19 (3). pp. 268-273. ISSN 1059-7794

W

Wegscheider, E. and Lorenz, B. and Bader, I. and Meitinger, T. and Meindl, A. (2002) Fundus autofluorescence in carriers for RP3 with known genotype. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, MAY 05-10, 2002, FT LAUDERDALE, FLORIDA.

Wutz, Krisztina and Sauer, Christian and Zrenner, Eberhart and Lorenz, Birgit and Alitalo, Tiina and Broghammer, Martina and Hergersberg, Martin and de La Chapelle, Albert and Weber, Bernhard H. F. and Wissinger, Bernd and Meindl, Alfons and Pusch, Carsten M. (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. EUROPEAN JOURNAL OF HUMAN GENETICS, 10 (8). pp. 449-456. ISSN 1018-4813