PubMed

Quantifying fixation in patients with Stargardt disease.

Reinhard J, Messias A, Dietz K, Mackeben M, Lakmann R, Scholl HP, Apfelstedt-Sylla E, Weber BH, Seeliger MW, Zrenner E, Trauzettel-Klosinski S.

Vision Res. 2007 Jul;47(15):2076-85. Epub 2007 Jun 11.PMID: 17562343 [PubMed - indexed for MEDLINE]Related articles

Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome.

Schuster A, Apfelstedt-Sylla E, Pusch CM, Zrenner E, Thirkill CE.

Ocul Immunol Inflamm. 2005 Apr-Jun;13(2-3):235-43.PMID: 16019685 [PubMed - indexed for MEDLINE]Related articles

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

Schuster A, Pusch CM, Gamer D, Apfelstedt-Sylla E, Zrenner E, Kurtenbach A.

Int J Mol Med. 2005 Jan;15(1):159-67.PMID: 15583843 [PubMed - indexed for MEDLINE]Related articles

Molecular basis of an inherited form of incomplete achromatopsia.

Tränkner D, Jägle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B.

J Neurosci. 2004 Jan 7;24(1):138-47.PMID: 14715947 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, Pusch CM.

Am J Ophthalmol. 2003 May;135(5):733-6.PMID: 12719097 [PubMed - indexed for MEDLINE]Related articles

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.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.PMID: 12657579 [PubMed - indexed for MEDLINE]Related articlesFree article

[Horner's syndrome in dissection of the carotid artery after chiropractic manipulation]

Gamer D, Schuster A, Aicher K, Apfelstedt-Sylla E.

Klin Monbl Augenheilkd. 2002 Sep;219(9):673-6. German. PMID: 12410468 [PubMed - indexed for MEDLINE]Related articles

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM.

Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. Epub 2002 Sep 21.PMID: 12397430 [PubMed - indexed for MEDLINE]Related articles

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

Langrová H, Gamer D, Friedburg C, Besch D, Zrenner E, Apfelstedt-Sylla E.

Vision Res. 2002 May;42(11):1475-83.PMID: 12044753 [PubMed - indexed for MEDLINE]Related articles

Visual field constriction and electrophysiological changes associated with vigabatrin.

Besch D, Kurtenbach A, Apfelstedt-Sylla E, Sadowski B, Dennig D, Asenbauer C, Zrenner E, Schiefer U.

Doc Ophthalmol. 2002 Mar;104(2):151-70.PMID: 11999623 [PubMed - indexed for MEDLINE]Related articles

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

Scholl HP, Besch D, Vonthein R, Weber BH, Apfelstedt-Sylla E.

Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1248-56.PMID: 11923272 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E.

Br J Ophthalmol. 2002 Mar;86(3):328-32.PMID: 11864893 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of Usher syndrome subtypes by ERG implicit time.

Seeliger MW, Zrenner E, Apfelstedt-Sylla E, Jaissle GB.

Invest Ophthalmol Vis Sci. 2001 Nov;42(12):3066-71.PMID: 11687556 [PubMed - indexed for MEDLINE]Related articlesFree article

Tamoxifen side effects, age-related macular degeneration (AMD) or cancer associated retinopathy (CAR)?

Sadowski B, Kriegbaum C, Apfelstedt-Sylla E.

Eur J Ophthalmol. 2001 Jul-Sep;11(3):309-12.PMID: 11681514 [PubMed - indexed for MEDLINE]Related articles

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

Scholl HP, Langrová H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2728-36.PMID: 11581222 [PubMed - indexed for MEDLINE]Related articlesFree article

CNGA3 mutations in hereditary cone photoreceptor disorders.

Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S.

Am J Hum Genet. 2001 Oct;69(4):722-37. Epub 2001 Aug 30.PMID: 11536077 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.

Hum Mol Genet. 2001 Jun 15;10(13):1359-68.PMID: 11440988 [PubMed - indexed for MEDLINE]Related articlesFree article

Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders.

Pesch K, Tomiuk J, Broghammer M, Zrenner E, Apfelstedt-Sylla E, Jacobi FK, Wissinger B, Pusch CM.

Int J Mol Med. 2001 Jul;8(1):53-8.PMID: 11408949 [PubMed - indexed for MEDLINE]Related articles

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

den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP.

Am J Hum Genet. 2001 Jul;69(1):198-203. Epub 2001 May 24. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160. PMID: 11389483 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A.

Nat Genet. 2001 Jun;28(2):123-4.PMID: 11381255 [PubMed - indexed for MEDLINE]Related articles

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

Scholl HP, Langrová H, Weber BH, Zrenner E, Apfelstedt-Sylla E.

Graefes Arch Clin Exp Ophthalmol. 2001 Feb;239(2):71-80.PMID: 11372548 [PubMed - indexed for MEDLINE]Related articles

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.

Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B.

Int J Mol Med. 2001 Feb;7(2):155-61.PMID: 11172618 [PubMed - indexed for MEDLINE]Related articles

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

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C.

Hum Mutat. 2001;17(1):34-41.PMID: 11139240 [PubMed - indexed for MEDLINE]Related articles

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9.PMID: 11095629 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D.

Nat Genet. 2000 Nov;26(3):270-1.PMID: 11062461 [PubMed - indexed for MEDLINE]Related articles

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

Scholl HP, Kremers J, Apfelstedt-Sylla E, Zrenner E.

Vision Res. 2000;40(22):3159-68.PMID: 10996618 [PubMed - indexed for MEDLINE]Related articles

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH.

Am J Hum Genet. 2000 Oct;67(4):800-13. Epub 2000 Aug 24.PMID: 10958763 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Seeliger M, Pfister M, Gendo K, Paasch S, Apfelstedt-Sylla E, Plinkert P, Zenner HP, Zrenner E.

Graefes Arch Clin Exp Ophthalmol. 1999 Apr;237(4):301-7.PMID: 10208263 [PubMed - indexed for MEDLINE]Related articles

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

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A.

Hum Mutat. 1999;13(2):133-40.PMID: 10094549 [PubMed - indexed for MEDLINE]Related articles

The role of the peripherin/RDS gene in retinal dystrophies.

Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B.

Acta Anat (Basel). 1998;162(2-3):75-84. Review.PMID: 9831753 [PubMed - indexed for MEDLINE]Related articles

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

Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT.

Genomics. 1998 Aug 1;51(3):325-31.PMID: 9721202 [PubMed - indexed for MEDLINE]Related articles

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

Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A.

Nat Genet. 1998 Jul;19(3):260-3.PMID: 9662399 [PubMed - indexed for MEDLINE]Related articles

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.

Nat Genet. 1998 Jul;19(3):257-9.PMID: 9662398 [PubMed - indexed for MEDLINE]Related articles

Multifocal electroretinography in patients with Stargardt's macular dystrophy.

Kretschmann U, Seeliger MW, Ruether K, Usui T, Apfelstedt-Sylla E, Zrenner E.

Br J Ophthalmol. 1998 Mar;82(3):267-75.PMID: 9602623 [PubMed - indexed for MEDLINE]Related articlesFree article

Implicit time topography of multifocal electroretinograms.

Seeliger MW, Kretschmann UH, Apfelstedt-Sylla E, Zrenner E.

Invest Ophthalmol Vis Sci. 1998 Apr;39(5):718-23.PMID: 9538878 [PubMed - indexed for MEDLINE]Related articlesFree article

Multifocal electroretinography in retinitis pigmentosa.

Seeliger M, Kretschmann U, Apfelstedt-Sylla E, Rüther K, Zrenner E.

Am J Ophthalmol. 1998 Feb;125(2):214-26. Erratum in: Am J Ophthalmol 1998 May;125(5):743. PMID: 9467449 [PubMed - indexed for MEDLINE]Related articles

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.

Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Rüther K, Zrenner E.

Graefes Arch Clin Exp Ophthalmol. 1997 Sep;235(9):575-83.PMID: 9342608 [PubMed - indexed for MEDLINE]Related articles

[Juvenile neuronal ceroid lipofuscinosis (Batten-Mayou) disease. Ophthalmologic diagnosis and findings]

Seeliger M, Rüther K, Apfelstedt-Sylla E, Schlote W, Wohlrab M, Zrenner E.

Ophthalmologe. 1997 Aug;94(8):557-62. German. PMID: 9376693 [PubMed - indexed for MEDLINE]Related articles

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

Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B.

J Med Genet. 1997 Aug;34(8):620-6.PMID: 9279751 [PubMed - indexed for MEDLINE]Related articlesFree article

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Felbor U, Stöhr H, Amann T, Schönherr U, Apfelstedt-Sylla E, Weber BH.

J Med Genet. 1996 Mar;33(3):233-6.PMID: 8728699 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Meindl A, Carvalho MR, Herrmann K, Lorenz B, Achatz H, Lorenz B, Apfelstedt-Sylla E, Wittwer B, Ross M, Meitinger T.

Hum Mol Genet. 1995 Dec;4(12):2339-46.PMID: 8634708 [PubMed - indexed for MEDLINE]Related articles

[Social ophthalmologic aspects of retinitis pigmentosa]

Rüther K, Banhart F, Kremmer S, Apfelstedt-Sylla E, Zrenner E.

Ophthalmologe. 1995 Oct;92(5):704-7. German. PMID: 8751001 [PubMed - indexed for MEDLINE]Related articles

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E.

Br J Ophthalmol. 1995 Jan;79(1):28-34.PMID: 7880786 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A.

Hum Mutat. 1994;3(3):321-3. No abstract available. PMID: 8019570 [PubMed - indexed for MEDLINE]Related articles

Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type.

Ruether K, Apfelstedt-Sylla E, Zrenner E.

Ger J Ophthalmol. 1993 Nov;2(6):429-35.PMID: 8312830 [PubMed - indexed for MEDLINE]Related articles

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

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gerding H, Gal A, Zrenner E.

Br J Ophthalmol. 1993 Aug;77(8):495-501.PMID: 8025047 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Horn M, Humphries P, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, Zrenner E, Kenna P, Gal A, Farrar J.

Hum Genet. 1992 Nov;90(3):255-7.PMID: 1487240 [PubMed - indexed for MEDLINE]Related articles

[Retinitis pigmentosa. Clinical findings, results of molecular genetic techniques and research perspectives]

Zrenner E, Rüther K, Apfelstedt-Sylla E.

Ophthalmologe. 1992 Feb;89(1):5-21. Review. German. PMID: 1581693 [PubMed - indexed for MEDLINE]Related articles

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

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E.

Ger J Ophthalmol. 1992;1(5):319-27.PMID: 1477634 [PubMed - indexed for MEDLINE]Related articles