Publications 2009
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PDFPubmed
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. -
Pubmed
Intraocular Pressure During a Very High Altitude Climb.
Bosch MM, Barthelmes D, Merz TM, Truffer F, Knecht P, Petrig BL, Bloch KE, Hefti U, Schubiger G, Landau K.
Invest Ophthalmol Vis Sci. 2009 Oct 29. [Epub ahead of print] -
Pubmed
Retinal ischemia-induced apoptosis is associated with alteration in Bax and Bcl-x(L) expression rather than modifications in Bak and Bcl-2.
Produit-Zengaffinen N, Pournaras CJ, Schorderet DF.
Mol Vis. 2009;15:2101-10. -
Pubmed
PAX6 aniridia and interhemispheric brain anomalies.
Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.
Mol Vis. 2009,15:2074-83. -
Pubmed
Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX.
Roduit R, Escher P, Schorderet DF.
PLoS One. 2009 Oct 12;4(10):e7379. -
Pubmed
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF, Escher P
Hum Mutat. 2009 30(11):1475-1485. -
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Pubmed
Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.
Hamann S, Schorderet DF, Cottet S.
PLoS One. 4(8):e6616,2009. -
Pubmed
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 Dec;50(12):5919-26. Epub 2009 Jul 2. -
PDFPubmed
Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.
Abouzeid H, Schorderet DF, Balmer A, Munier FL.
Mol Vis. 15:771-7,2009. -
PDFPubmed
Mechanisms of apoptosis in retinitis pigmentosa.
Cottet S, Schorderet DF.
Curr Mol Med. 9(3):375-83,2009 -
PDFPubmed
Thérapie géniques des rétinopathies héréditaires: premiers résultats.
Viet Tran H, Schorderet DF, Kostic C, Munier FL, Arsenijevic Y.
Rev Med Suisse 5:118-123,2009. -
PDFPubmed
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Mégarbané A, Schorderet DF.
Am J Hum Genet. 84(2):259-265,2009 -
PDFPubmed
New Insights into Ocular Blood Flow at very High Altitudes.
Bosch MM, Merz TM, Barthelmes D, Petrig BL, Truffer F, Bloch KE, Turk A, Maggiorini M, Hess T, Schoch O, Hefti U, Sutter FK, Pichler J, Huber A, Landau K.
J Appl Physiol. 106(2):454-60,2009. [Epub ahead of print, Dec 4, 2008] -
PDFPubmed
A Corneal Dystrophy Associated with Transforming Growth Factor beta-Induced Gly623Asp Mutation An Amyloidogenic Phenotype.
Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.
Ophthalmology. 2009 Jan;116(1):46-51 (Epub 2008 Nov 18) -
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Pubmed
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF
Hum Mutat. 2009 Mar;30(3):342-51 (e-pub ahead of print 2008 Nov 12) -
PDFPubmed
A New Locus for Congenital Cataract, Microcornea, Microphthalmia, and Atypical Iris Coloboma Maps to Chromosome 2.
Abouzeid H, Meire FM, Osman I, Elshakankiri N, Bolay S, Munier FL, Schorderet DF.
Ophthalmology. 2009 Jan;116(1):154-162.e1. (Epub 2008 Nov 12). -
PDFPubmed
TGFBI (BIGH3) gene mutations in German families- two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhardt T, Froster UG, Duncker GI, Schorderet D, Auw-Haedrich C.
Br J Ophthalmol. 93(7):932-7,2009 [Epub ahead of print, Nov 10, 2008] -
PDFPubmed
Unilateral macular oedema in Zermatt and Stargardt-like macular dystrophies.
Abouzeid H, Wolfensberger TJ, Schorderet DF, Munier FL.
Br J Ophthalmol. 2009 Oct;93(10):1376-7, 1407-8. Epub 2008 Oct 6. -
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Glucose represses PPARa gene expression via AMP-activated protein kinase but not via p38 mitogen-activated protein kinase in the pancreatic b-cell
Erik Joly, Raphaël Roduit, Marie-Line Peyot, Susan Amy Habinowski,Neil Bertrand Ruderman, Lee Alan Witters, Marc Prentik
Journal of Diabetes 1 (2009) 263–272
