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Items: 1 to 50 of 52

1.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.

Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6.

PMID:
31058429
2.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406
3.

Cardiovascular Risk Factors in Central Retinal Artery Occlusion: Results of a Prospective and Standardized Medical Examination.

Callizo J, Feltgen N, Pantenburg S, Wolf A, Neubauer AS, Jurklies B, Wachter R, Schmoor C, Schumacher M, Junker B, Pielen A; European Assessment Group for Lysis in the Eye.

Ophthalmology. 2015 Sep;122(9):1881-8. doi: 10.1016/j.ophtha.2015.05.044. Epub 2015 Jul 21.

PMID:
26231133
4.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK.

Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.

5.

Intraocular biopsy using special forceps: a new instrument and refined surgical technique.

Akgul H, Otterbach F, Bornfeld N, Jurklies B.

Br J Ophthalmol. 2011 Jan;95(1):79-82. doi: 10.1136/bjo.2008.148395.

PMID:
21163820
6.

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S.

Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1.

7.

[Comparison of superselective intraarterial fibrinolysis with conservative therapy. Use in patients with acute non-arteritic central retinal artery occlusion].

Wolf A, Schumacher M, Neubauer AS, Schmoor C, Gall C, Jurklies B, Wanke I, Solymosi L, Brückmann H, Schmidt D, Feltgen N; European Assessment Group for Lysis in the Eye Studien Gruppe.

Ophthalmologe. 2010 Sep;107(9):799-805. doi: 10.1007/s00347-010-2247-z. German.

PMID:
20821332
8.

Central retinal artery occlusion: local intra-arterial fibrinolysis versus conservative treatment, a multicenter randomized trial.

Schumacher M, Schmidt D, Jurklies B, Gall C, Wanke I, Schmoor C, Maier-Lenz H, Solymosi L, Brueckmann H, Neubauer AS, Wolf A, Feltgen N; EAGLE-Study Group.

Ophthalmology. 2010 Jul;117(7):1367-75.e1. doi: 10.1016/j.ophtha.2010.03.061.

PMID:
20609991
9.

Course of pattern-reversed visual evoked cortical potentials in 30 eyes after bony orbital decompression in dysthyroid optic neuropathy.

Lipski A, Eckstein A, Esser J, Loesch C, Mann K, Mohr C, Jurklies B.

Br J Ophthalmol. 2011 Feb;95(2):222-6. doi: 10.1136/bjo.2009.173658. Epub 2010 Jun 28.

PMID:
20584712
10.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B.

Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3.

11.

[Different indications of photodynamic therapy in ophthalmology].

Lang GE, Mennel S, Spital G, Wachtlin J, Jurklies B, Heimann H, Damato B, Meyer CH.

Klin Monbl Augenheilkd. 2009 Sep;226(9):725-39. doi: 10.1055/s-0028-1109514. Epub 2009 Jul 14. Review. German.

PMID:
19603375
12.

Photodynamic therapy with verteporfin in paediatric and young adult patients: long-term treatment results of choroidal neovascularisations.

Lipski A, Bornfeld N, Jurklies B.

Br J Ophthalmol. 2008 May;92(5):655-60. doi: 10.1136/bjo.2007.134429. Epub 2008 Mar 20.

PMID:
18356263
13.
14.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570
15.

[Lysis therapy vs. conservative therapy: randomised and prospective study on the treatment of acute central retinal artery occlusion (EAGLE study)].

Feltgen N, Reinhard T, Kampik A, Jurklies B, Brückmann H, Schumacher M.

Ophthalmologe. 2006 Oct;103(10):898-900. German.

PMID:
16998653
16.

[Endoresection of large uveal melanomas after pretreatment by single-dose stereotactic convergence irradiation with the leksell gamma knife--first experience on 46 cases].

Schilling H, Bornfeld N, Talies S, Anastassiou G, Schüler A, Horstmann GA, Jurklies B.

Klin Monbl Augenheilkd. 2006 Jun;223(6):513-20. German.

PMID:
16804822
17.

Photodynamic therapy using verteporfin for choroidal neovascularization associated with angioid streaks--long-term effects.

Jurklies B, Bornfeld N, Schilling H.

Ophthalmic Res. 2006;38(4):209-17. Epub 2006 May 4.

PMID:
16679809
18.

Ruthenium-106 plaque brachytherapy for symptomatic vasoproliferative tumours of the retina.

Anastassiou G, Bornfeld N, Schueler AO, Schilling H, Weber S, Fluehs D, Jurklies B, Vij O, Sauerwein W.

Br J Ophthalmol. 2006 Apr;90(4):447-50.

19.

Multicenter study of the European Assessment Group for Lysis in the Eye (EAGLE) for the treatment of central retinal artery occlusion: design issues and implications. EAGLE Study report no. 1 : EAGLE Study report no. 1.

Feltgen N, Neubauer A, Jurklies B, Schmoor C, Schmidt D, Wanke J, Maier-Lenz H, Schumacher M; EAGLE-Study Group.

Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):950-6. Epub 2005 Dec 22.

PMID:
16372192
20.

["Talking Eyes" versus "Silent Ophthalmoscopy"?].

Jurklies B, Bornfeld N.

Klin Monbl Augenheilkd. 2005 Apr;222(4):317-8. German. No abstract available.

PMID:
15844041
21.

The role of photodynamic therapy in the treatment of symptomatic choroidal hemangioma.

Jurklies B, Bornfeld N.

Graefes Arch Clin Exp Ophthalmol. 2005 May;243(5):393-6. Epub 2005 Feb 8. Review. No abstract available.

PMID:
15700182
22.

Long-term effect of acetazolamide treatment of patients with uveitic chronic cystoid macular edema is limited by persisting inflammation.

Schilling H, Heiligenhaus A, Laube T, Bornfeld N, Jurklies B.

Retina. 2005 Feb-Mar;25(2):182-8.

PMID:
15689809
23.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.

Eur J Hum Genet. 2005 Mar;13(3):302-8.

24.

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A.

Hum Mutat. 2004 Nov;24(5):439.

PMID:
15459973
25.

Photodynamic therapy using verteporfin in circumscribed choroidal haemangioma.

Jurklies B, Anastassiou G, Ortmans S, Schüler A, Schilling H, Schmidt-Erfurth U, Bornfeld N.

Br J Ophthalmol. 2003 Jan;87(1):84-9.

26.

Photodynamic therapy for symptomatic choroidal hemangioma: visual and anatomic results.

Schmidt-Erfurth UM, Michels S, Kusserow C, Jurklies B, Augustin AJ.

Ophthalmology. 2002 Dec;109(12):2284-94.

PMID:
12466172
27.

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.

Pusch CM, Broghammer M, Jurklies B, Besch D, Jacobi FK.

Hum Mutat. 2002 Nov;20(5):405.

PMID:
12402343
28.

Monitoring retinal function in neovascular maculopathy using multifocal electroretinography - early and long-term correlation with clinical findings.

Jurklies B, Weismann M, Hüsing J, Sutter EE, Bornfeld N.

Graefes Arch Clin Exp Ophthalmol. 2002 Apr;240(4):244-64. Epub 2002 Mar 15.

PMID:
11981638
29.

[Multifocal electroretinography (mfERG)].

Seeliger MW, Jurklies B, Kellner U, Palmowski A, Bach M, Kretschmann U.

Ophthalmologe. 2001 Nov;98(11):1112-27; quiz 1128-9. Review. German. No abstract available.

PMID:
11729748
30.
31.

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.

32.

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
33.

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.

34.

[Clinical findings in autosomal recessive syndrome of blue cone hypersensitivity].

Jurklies B, Weismann M, Kellner U, Zrenner E, Bornfeld N.

Ophthalmologe. 2001 Mar;98(3):285-93. German.

PMID:
11320818
35.

EFEMP1 is not associated with sporadic early onset drusen.

Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH.

Ophthalmic Genet. 2001 Mar;22(1):27-34.

PMID:
11262647
36.

[Effect of retinal coagulation status on oxidative metabolite and VEGF in 208 patients with proliferative diabetic retinopathy].

Augustin AJ, Keller A, Koch F, Jurklies B, Dick B.

Klin Monbl Augenheilkd. 2001 Feb;218(2):89-94. German.

PMID:
11258131
37.

[Multifocal electroretinography in diagnosis of macular diseases].

Jurklies B, Weismann M, Bornfeld N.

Ophthalmologe. 2001 Jan;98(1):19-25. Review. German. No abstract available.

PMID:
11220266
38.

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.

39.

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH.

Eur J Hum Genet. 2000 Apr;8(4):286-92.

40.
41.

Bietti's crystalline dystrophy of the retina and cornea.

Jurklies B, Jurklies C, Schmidt U, Wessing A.

Retina. 1999;19(2):168-71. No abstract available.

PMID:
10213247
42.

Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).

Stöhr H, Klein J, Gehrig A, Koehler MR, Jurklies B, Kellner U, Leo-Kottler B, Schmid M, Weber BH.

Hum Genet. 1999 Jan;104(1):99-105.

PMID:
10071200
43.

Positional cloning of the gene associated with X-linked juvenile retinoschisis.

Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH.

Nat Genet. 1997 Oct;17(2):164-70.

PMID:
9326935
44.

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.

Biochem Biophys Res Commun. 1997 May 19;234(2):511-5.

PMID:
9177303
45.

[Retinitis pigmentosa--clinical, genetic and pathophysiologic aspects].

Jurklies B, Zrenner E, Wessing A.

Klin Monbl Augenheilkd. 1997 Jan;210(1):1-18. Review. German.

PMID:
9206727
46.

Angiotensin II in the rabbit retina.

Kohler K, Wheeler-Schilling T, Jurklies B, Guenther E, Zrenner E.

Vis Neurosci. 1997 Jan-Feb;14(1):63-71.

PMID:
9057269
47.
48.

The renin-angiotensin system--a possible neuromodulator in the human retina?

Jurklies B, Eckstein A, Jacobi P, Kohler K, Risler T, Zrenner E.

Ger J Ophthalmol. 1995 May;4(3):144-50.

PMID:
7663326
49.

[Binding and electrophysiology of the muscarinic antagonist QNB in the mammalian retina].

Niemeyer G, Jurklies B, Kaelin-Lang A, Bittiger H.

Klin Monbl Augenheilkd. 1995 May;206(5):380-3. German.

PMID:
7609393
50.

[Experimental studies of the significance of the renin-angiotensin system in the retina. A review].

Jacobi PC, Jurklies B, Kohler K, Zrenner E.

Klin Monbl Augenheilkd. 1994 Jun;204(6):527-34. Review. German.

PMID:
7933900

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