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    Results: 1 to 50 of 115

    1.

    TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

    Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

    Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

    2.

    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. Epub 2009 Nov 3.PMID: 19887631 [PubMed - in process]Related articles

    3.

    Retinal ganglion cells are primarily affected in an animal model of OPA1 associated autosomal dominant optic atrophy.

    Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV.

    Invest Ophthalmol Vis Sci. 2009 Oct 15. [Epub ahead of print]PMID: 19834041 [PubMed - as supplied by publisher]Related articles

    4.

    Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.

    Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B.

    Exp Neurol. 2009 Dec;220(2):404-9. Epub 2009 Oct 6.PMID: 19815013 [PubMed - in process]Related articles

    5.

    Oligocone trichromacy: Clinical and molecular genetic investigations.

    Andersen M, Christoffersen N, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.

    Invest Ophthalmol Vis Sci. 2009 Sep 24. [Epub ahead of print]PMID: 19797231 [PubMed - as supplied by publisher]Related articles

    6.

    Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.

    Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Reinthal E, Wissinger B, Weisschuh N.

    BMC Med Genet. 2009 Sep 15;10:91.PMID: 19754948 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    In vivo analysis of cone survival in mice.

    Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger M, Tanimoto N.

    Invest Ophthalmol Vis Sci. 2009 Sep 8. [Epub ahead of print]PMID: 19737879 [PubMed - as supplied by publisher]Related articles

    8.

    Genotyping microarray for CSNB-associated genes.

    Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

    Invest Ophthalmol Vis Sci. 2009 Jul 2. [Epub ahead of print]PMID: 19578023 [PubMed - as supplied by publisher]Related articles

    9.

    Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

    Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW.

    Hum Mutat. 2009 Aug;30(8):E782-96.PMID: 19459154 [PubMed - indexed for MEDLINE]Related articles

    10.

    Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma.

    Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N.

    J Glaucoma. 2009 Apr 15. [Epub ahead of print]PMID: 19373106 [PubMed - as supplied by publisher]Related articles

    11.

    A clinical and molecular genetic study of German patients with primary congenital glaucoma.

    Weisschuh N, Wolf C, Wissinger B, Gramer E.

    Am J Ophthalmol. 2009 Apr;147(4):744-53. Epub 2009 Feb 4.PMID: 19195637 [PubMed - indexed for MEDLINE]Related articles

    12.

    Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

    Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B.

    J Med Genet. 2009 Feb;46(2):136-44.PMID: 19181907 [PubMed - indexed for MEDLINE]Related articles

    13.

    [Cone dystrophy--of the significance of a minority of photoreceptors]

    Wissinger B.

    Ophthalmologe. 2009 Feb;106(2):97-8. German. No abstract available. PMID: 19156428 [PubMed - indexed for MEDLINE]Related articles

    14.

    Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

    Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.

    Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. Epub 2008 Nov 26.PMID: 19038374 [PubMed - indexed for MEDLINE]Related articles

    15.

    Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

    Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.

    Br J Ophthalmol. 2008 Aug;92(8):1086-91.PMID: 18653602 [PubMed - indexed for MEDLINE]Related articles

    16.

    Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

    Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group.

    Hum Mutat. 2008 Oct;29(10):1228-36.PMID: 18521937 [PubMed - indexed for MEDLINE]Related articles

    17.

    A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

    Weisschuh N, Wolf C, Wissinger B, Gramer E.

    Clin Genet. 2008 Nov;74(5):476-80. Epub 2008 May 21.PMID: 18498376 [PubMed - indexed for MEDLINE]Related articles

    18.

    Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

    Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà M, Birch DG, Wissinger B, Zrenner E, Kohl S.

    Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. Epub 2008 May 16.PMID: 18487367 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

    Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B.

    Eur J Neurosci. 2008 May;27(9):2391-401.PMID: 18445228 [PubMed - indexed for MEDLINE]Related articles

    20.

    ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

    Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.

    Eur J Hum Genet. 2008 Jul;16(7):812-9. Epub 2008 Feb 20.PMID: 18285826 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.

    Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7.PMID: 18235024 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

    Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V.

    Brain. 2008 Feb;131(Pt 2):352-67.PMID: 18222991 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

    Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.

    Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.PMID: 18158317 [PubMed - indexed for MEDLINE]Related articlesFree article

    24.

    Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

    Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.

    Am J Hum Genet. 2007 Nov;81(5):1098-103. Epub 2007 Sep 26.PMID: 17924349 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.

    Bette S, Zimmermann U, Wissinger B, Knipper M.

    Histochem Cell Biol. 2007 Nov;128(5):421-30. Epub 2007 Sep 8.PMID: 17828551 [PubMed - indexed for MEDLINE]Related articles

    26.

    Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

    Schimpf S, Fuhrmann N, Schaich S, Wissinger B.

    Hum Mutat. 2008 Jan;29(1):106-12.PMID: 17722006 [PubMed - indexed for MEDLINE]Related articles

    27.

    Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach.

    Weisschuh N, Alavi MV, Bonin M, Wissinger B.

    Exp Eye Res. 2007 Oct;85(4):450-61. Epub 2007 Jun 27.PMID: 17663987 [PubMed - indexed for MEDLINE]Related articles

    28.

    CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

    Khan NW, Wissinger B, Kohl S, Sieving PA.

    Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71.PMID: 17652762 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Variations in the WDR36 gene in German patients with normal tension glaucoma.

    Weisschuh N, Wolf C, Wissinger B, Gramer E.

    Mol Vis. 2007 May 16;13:724-9.PMID: 17563723 [PubMed - indexed for MEDLINE]Related articlesFree article

    30.

    The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.

    Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31.PMID: 17389517 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

    Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

    Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.PMID: 17320181 [PubMed - indexed for MEDLINE]Related articles

    32.

    A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

    Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.

    Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.PMID: 17314202 [PubMed - indexed for MEDLINE]Related articlesFree article

    33.

    Mapping of transcription start sites of human retina expressed genes.

    Roni V, Carpio R, Wissinger B.

    BMC Genomics. 2007 Feb 7;8:42.PMID: 17286855 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

    Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W.

    Am J Hum Genet. 2006 Nov;79(5):973-7. Epub 2006 Sep 27.PMID: 17033974 [PubMed - indexed for MEDLINE]Related articlesFree article

    35.

    Development of a genotyping microarray for Usher syndrome.

    Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.

    J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.PMID: 16963483 [PubMed - indexed for MEDLINE]Related articlesFree article

    36.

    Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

    Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W.

    Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23.PMID: 16960802 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

    Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.

    Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162. PMID: 16936096 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

    Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M.

    Exp Eye Res. 2006 Sep;83(3):702-6. Epub 2006 May 12.PMID: 16698014 [PubMed - indexed for MEDLINE]Related articles

    39.

    Response: ClC-Kb Mutation Revisited.

    Jeck N, Waldegger S, Wissinger B, Schwab M, Lang F.

    Hypertension. 2006 Jan 30. [Epub ahead of print] No abstract available. PMID: 16446390 [PubMed - as supplied by publisher]Related articles

    40.

    Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

    Schimpf S, Schaich S, Wissinger B.

    Hum Genet. 2006 Feb;118(6):767-71. Epub 2005 Dec 2.PMID: 16323009 [PubMed - indexed for MEDLINE]Related articles

    41.

    Clinical and genetic features of Hungarian achromatopsia patients.

    Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A.

    Mol Vis. 2005 Nov 17;11:996-1001.PMID: 16319819 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

    Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A.

    Hum Mol Genet. 2005 Dec 15;14(24):3865-75. Epub 2005 Nov 3. Erratum in: Hum Mol Genet. 2006 May 1;15(9):1559. PMID: 16269441 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

    Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B.

    Br J Ophthalmol. 2005 Oct;89(10):1258-64.PMID: 16170112 [PubMed - indexed for MEDLINE]Related articlesFree article

    44.

    Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.

    Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E.

    Mol Vis. 2005 Apr 18;11:284-7.PMID: 15851979 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.

    Bette S, Schlaszus H, Wissinger B, Meyermann R, Mittelbronn M.

    Acta Neuropathol. 2005 Apr;109(4):393-9. Epub 2005 Feb 8.PMID: 15700187 [PubMed - indexed for MEDLINE]Related articles

    46.

    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.PMID: 15657609 [PubMed - indexed for MEDLINE]Related articlesFree article

    47.

    Morphology and functional characteristics in adult vitelliform macular dystrophy.

    Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH.

    Retina. 2004 Dec;24(6):929-39.PMID: 15579992 [PubMed - indexed for MEDLINE]Related articles

    48.

    Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

    Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauvé Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K.

    Hum Mol Genet. 2005 Jan 15;14(2):255-65. Epub 2004 Nov 24.PMID: 15563508 [PubMed - indexed for MEDLINE]Related articlesFree article

    49.

    Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

    Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B.

    Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62.PMID: 15557429 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

    Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V.

    Ann Neurol. 2004 Nov;56(5):719-23.PMID: 15505825 [PubMed - indexed for MEDLINE]Related articles

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