Publications 2011
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Pubmed
A novel PIKFYVE mutation in fleck corneal dystrophy.
Kotoulas A, Kokotas H, Kopsidas K, Droutsas K, Grigoriadou M, Bajrami H, Schorderet DF, Petersen MB.
Mol Vis. 2011;17:2776-81. Epub 2011 Oct 25. -
Pubmed
The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells.
Allaman-Pillet N, Oberson A, Munier F, Schorderet DF.
Ophthalmic Genet. 2011 Sep 28. [Epub ahead of print] -
Pubmed
Acute hypoglycemia induces retinal cell death in mouse.
Emery M, Schorderet DF, Roduit R.
PLoS One. 2011;6(6):e21586. Epub 2011 Jun 27. -
Pubmed
Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.
Escher P, Schorderet DF, Cottet S.
Invest Ophthalmol Vis Sci. 2011 Jun 29. [Epub ahead of print] -
Pubmed
Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis.
Le Carré J, Schorderet DF, Cottet S
Mol Vis. 2011;17:1287-97. Epub 2011 May 7 -
Pubmed
Chiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma
Mataftsi A, Zografos L, Balmer A, Uffer S, Stupp R, Janzer RC, Pica A, Schorderet DF, Munier FL.
Ophthalmic Genet. 2011 Apr 28. [Epub ahead of print] -
Pubmed
Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation.
Vaclavik V, Schorderet DF, Borruat FX, Munier FL.
Ophthalmic Genet. 2011 Jun;32(2):114-7. Epub 2011 Mar 18. -
Pubmed
Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.
Mollema NJ, Yuan Y, Jelcick AS, Sachs AJ, von Alpen D, Schorderet D, Escher P, Haider NB.
PLoS One. 2011 Mar 8;6(3):e17494. -
Pubmed
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
Am J Hum Genet. 2011 Mar 11;88(3):382-90. -
Pubmed
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome.
Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF.
Am J Hum Genet. 2011 Jan 7;88(1):92-8. Epub 2010 Dec 30. -
Pubmed
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L.
J Hum Genet. 2011 Jan;56(1):22-8. Epub 2010 Nov 25. -
Pubmed
Modern cataract surgery for radiation-induced cataracts in retinoblastoma.
Osman IM, Abouzeid H, Balmer A, Gaillard MC, Othenin-Girard P, Pica A, Moeckli R, Schorderet DF, Munier FL.
Br J Ophthalmol. 2011 Feb;95(2):227-30. Epub 2010 Jun 24.
