E. Apfelstedt‐Sylla

发表

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

K Rohrschneider, L I van den Born, M J van Schooneveld, 2001, American journal of human genetics.

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

P. Sieving, S. Jacobson, B. Lorenz, 2000, Investigative ophthalmology & visual science.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

S. Jacobson, D. Vollrath, Yun Li, 2000, Nature Genetics.

Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis

C. Petit, S. Blanchard, A. Gal, 2001, Human mutation.

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

E. Zrenner, T. Rosenberg, M. Sadeghi, 1999, Human mutation.

Quantifying fixation in patients with Stargardt disease

M. Seeliger, M. Mackeben, S. Trauzettel-Klosinski, 2007, Vision Research.

Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.

D. Besch, R. Vonthein, H. Scholl, 2002, Investigative ophthalmology & visual science.

Clinical electrophysiology of two rod pathways: normative values and clinical application

E. Zrenner, H. Langrová, B. Weber, 2001, Graefe's Archive for Clinical and Experimental Ophthalmology.

Multifocal electroretinography in patients with Stargardt’s macular dystrophy

M. Seeliger, E. Zrenner, E. Apfelstedt-Sylla, 1998, The British journal of ophthalmology.

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

P. Sieving, Yun Li, T. J. Carlson, 2001, Nature Genetics.

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

T. Meitinger, T. Strom, A. Rosenthal, 1998, Nature Genetics.

Identification of Usher syndrome subtypes by ERG implicit time.

M. Seeliger, E. Zrenner, E. Apfelstedt-Sylla, 2001, Investigative ophthalmology & visual science.

Comparative study of visual, auditory, and olfactory function in Usher syndrome

M. Seeliger, E. Zrenner, P. Plinkert, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Genomics.

Autoimmune Retinopathy with RPE Hypersensitivity and ‘Negative ERG’ in X-Linked Hyper-IgM Syndrome

E. Zrenner, C. Pusch, C. Thirkill, 2005, Ocular immunology and inflammation.

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

E. Zrenner, B. Jurklies, B. Wissinger, 2001, Human molecular genetics.

Tamoxifen Side Effects, Age-Related Macular Degeneration (AMD) or Cancer Associated Retinopathy (CAR)?

B. Sadowski, E. Apfelstedt-Sylla, C. Kriegbaum, 2001, European journal of ophthalmology.

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert–Bornschein type

E. Zrenner, D. Besch, C. Friedburg, 2002, Vision Research.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

T. Meitinger, B. Lorenz, A. Meindl, 2003, Investigative ophthalmology & visual science.

Rhodopsin mutations in inherited retinal dystrophies and dysfunctions

A. Janecke, E. Apfelstedt-Sylla, A. Gal, 1997, Progress in Retinal and Eye Research.

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1992, German journal of ophthalmology.

L- and M-cone driven ERGs are differently altered in Best’s macular dystrophy

J. Kremers, E. Zrenner, H. Scholl, 2000, Vision Research.

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.

T. Meitinger, B. Lorenz, A. Meindl, 1995, Human molecular genetics.

Implicit time topography of multifocal electroretinograms.

E Zrenner, M. Seeliger, E. Zrenner, 1998, Investigative ophthalmology & visual science.

Visual field constriction and electrophysiological changes associated with vigabatrin

E. Zrenner, U. Schiefer, D. Besch, 2002, Documenta Ophthalmologica.

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

E. Zrenner, B. Wissinger, S. Tippmann, 2002, The British journal of ophthalmology.

Molecular Basis of an Inherited Form of Incomplete Achromatopsia

L. Sharpe, E. Zrenner, U. Kaupp, 2004, The Journal of Neuroscience.

Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.

E. Zrenner, C. Pusch, B. Wissinger, 2001, Investigative ophthalmology & visual science.

Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness.

E. Zrenner, C. Pusch, A. Kurtenbach, 2005, International journal of molecular medicine.

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and GIn344stop mutations of rhodopsin

K. Rüther, S. Kremmer, A. Gal, 1997, Graefe's Archive for Clinical and Experimental Ophthalmology.

The Role of the Peripherin/RDS Gene in Retinal Dystrophies

E. Zrenner, I. Giddings, D. Besch, 1998, Cells Tissues Organs.

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

E. Zrenner, P. Humphries, C. Marchese, 1992, Human Genetics.

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

E. Zrenner, B. Wissinger, S. Kohl, 1997, Journal of medical genetics.

Multifocal electroretinography in retinitis pigmentosa.

E Zrenner, M. Seeliger, E. Zrenner, 1998, American journal of ophthalmology.

Clinical aspects: retinitis pigmentosa

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1995 .

Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

E. Zrenner, K. Rüther, E. Apfelstedt-Sylla, 1993 .

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

E. Zrenner, H. Gerding, K. Rüther, 1993, The British journal of ophthalmology.