PubMed

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

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 Oct 19;15:2101-10.PMID: 19862336 [PubMed - in process]Related articlesFree article

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.

Mol Vis. 2009 Oct 17;15:2074-83.PMID: 19862335 [PubMed - in process]Related articlesFree article

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.PMID: 19823680 [PubMed - in process]Related articlesFree article

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 Nov;30(11):1475-85.PMID: 19718767 [PubMed - in process]Related articles

Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.

Hamann S, Schorderet DF, Cottet S.

PLoS One. 2009 Aug 12;4(8):e6616.PMID: 19672311 [PubMed - in process]Related articlesFree article

Genotyping Microarray for CSNB-Associated Genes.

Zeitz C, Labs S, Lorenz B, Forster U, Uksti 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, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. Epub 2009 Jul 2.PMID: 19578023 [PubMed - in process]Related articles

Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Abouzeid H, Schorderet DF, Balmer A, Munier FL.

Mol Vis. 2009;15:771-7. Epub 2009 Apr 17.PMID: 19390654 [PubMed - indexed for MEDLINE]Related articlesFree article

Mechanisms of apoptosis in retinitis pigmentosa.

Cottet S, Schorderet DF.

Curr Mol Med. 2009 Apr;9(3):375-83. Review.PMID: 19355918 [PubMed - indexed for MEDLINE]Related articles

[Gene therapy for hereditary eye diseases: where are we?]

Viet Tran H, Schorderet DF, Kostic C, Munier FL, Arsenijevic Y.

Rev Med Suisse. 2009 Jan 14;5(186):118-23. French. PMID: 19238930 [PubMed - indexed for MEDLINE]Related articles

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. 2009 Feb;84(2):259-65. Epub 2009 Feb 5.PMID: 19200527 [PubMed - indexed for MEDLINE]Related articlesFree article

Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.

Escher P, Cottet S, Aono S, Oohira A, Schorderet DF.

Mol Vis. 2008;14:2126-35. Epub 2008 Nov 26.PMID: 19050768 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 19019446 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19006237 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19004499 [PubMed - indexed for MEDLINE]Related articles

Unilateral macular oedema in Zermatt and Stargardt 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. No abstract available. PMID: 18838412 [PubMed - indexed for MEDLINE]Related articles

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K.

J Clin Invest. 2008 Aug;118(8):2908-16.PMID: 18654668 [PubMed - indexed for MEDLINE]Related articlesFree article

Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice.

Bustamante M, Tasinato A, Maurer F, Elkochairi I, Lepore MG, Arsenijevic Y, Pedrazzini T, Munier FL, Schorderet DF.

Mol Vis. 2008 Jun 13;14:1129-37.PMID: 18568131 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.

Boisset G, Polok BK, Schorderet DF.

Gene Expr Patterns. 2008 Jul;8(6):404-10. Epub 2008 Apr 30.PMID: 18558518 [PubMed - indexed for MEDLINE]Related articles

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL.

Am J Hum Genet. 2008 May;82(5):1178-84.PMID: 18423520 [PubMed - indexed for MEDLINE]Related articlesFree article

Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital amaurosis.

Cottet S, Schorderet DF.

Apoptosis. 2008 Mar;13(3):329-42.PMID: 18274907 [PubMed - indexed for MEDLINE]Related articles

Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye development.

Nichini O, Schorderet DF.

Gene. 2008 Mar 31;411(1-2):10-8. Epub 2008 Jan 2.PMID: 18258389 [PubMed - indexed for MEDLINE]Related articles

MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells.

Roduit R, Schorderet DF.

Apoptosis. 2008 Mar;13(3):343-53.PMID: 18253836 [PubMed - indexed for MEDLINE]Related articles

Deposits of transforming growth factor-beta-induced protein in granular corneal dystrophy type II after LASIK.

Kim TI, Roh MI, Grossniklaus HE, Kang SJ, Hamilton SM, Schorderet DF, Lee WB, Kim EK.

Cornea. 2008 Jan;27(1):28-32.PMID: 18245963 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism.

Droz I, Mantel I, Ambresin A, Faouzi M, Schorderet DF, Munier FL.

Br J Ophthalmol. 2008 Apr;92(4):513-7. Epub 2008 Jan 22.PMID: 18211923 [PubMed - indexed for MEDLINE]Related articles

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.PMID: 17962469 [PubMed - indexed for MEDLINE]Related articlesFree article

Ten novel RB1 gene mutations in patients with retinoblastoma.

Abouzeid H, Munier FL, Thonney F, Schorderet DF.

Mol Vis. 2007 Sep 19;13:1740-5.PMID: 17960112 [PubMed - indexed for MEDLINE]Related articlesFree article

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. Epub 2007 Sep 5.PMID: 17804835 [PubMed - indexed for MEDLINE]Related articlesFree article

Conjunctivitis as a sign of PFAPA syndrome.

Kolokotronis A, Markopoulos A, Voutas S, Mataftsi A, Ikonomidis P, Antoniades D, Schorderet DF.

Ophthalmology. 2007 Aug;114(8):1584. No abstract available. PMID: 17678694 [PubMed - indexed for MEDLINE]Related articles

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

Hilton EN, Black GC, Manson FD, Schorderet DF, Munier FL.

Br J Ophthalmol. 2007 Aug;91(8):1083-4. No abstract available. PMID: 17638818 [PubMed - indexed for MEDLINE]Related articles

5'AMP-activated protein kinase alpha deficiency enhances stress-induced apoptosis in BHK and PC12 cells.

Shaw MM, Gurr WK, McCrimmon RJ, Schorderet DF, Sherwin RS.

J Cell Mol Med. 2007 Mar-Apr;11(2):286-98.PMID: 17488477 [PubMed - indexed for MEDLINE]Related articles

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.

Klin Monbl Augenheilkd. 2007 Apr;224(4):340-3.PMID: 17458809 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL.

Hum Mutat. 2007 May;28(5):525.PMID: 17397053 [PubMed - indexed for MEDLINE]Related articles

Retinopathy in Danon disease.

Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL.

Arch Ophthalmol. 2007 Feb;125(2):231-6.PMID: 17296900 [PubMed - indexed for MEDLINE]Related articlesFree article

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.

J Med Genet. 2007 Mar;44(3):e70. Epub 2007 Feb 7.PMID: 17287362 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate.

Canola K, Angénieux B, Tekaya M, Quiambao A, Naash MI, Munier FL, Schorderet DF, Arsenijevic Y.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):446-54.PMID: 17197566 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.PMID: 17167399 [PubMed - indexed for MEDLINE]Related articlesFree article

Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease.

Cottet S, Michaut L, Boisset G, Schlecht U, Gehring W, Schorderet DF.

FASEB J. 2006 Oct;20(12):2036-49.PMID: 17012256 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.

El Kochairi I, Letovanec I, Uffer S, Munier FL, Chaubert P, Schorderet DF.

Mol Vis. 2006 May 10;12:461-6.PMID: 16710170 [PubMed - indexed for MEDLINE]Related articlesFree article

Keratoepithelin suppresses the progression of experimental human neuroblastomas.

Becker J, Erdlenbruch B, Noskova I, Schramm A, Aumailley M, Schorderet DF, Schweigerer L.

Cancer Res. 2006 May 15;66(10):5314-21.PMID: 16707457 [PubMed - indexed for MEDLINE]Related articlesFree article

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF.

Hum Mutat. 2006 Jun;27(6):553-7.PMID: 16652336 [PubMed - indexed for MEDLINE]Related articles

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.PMID: 16646960 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.

El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL.

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1104-12. Epub 2006 Feb 28.PMID: 16518657 [PubMed - indexed for MEDLINE]Related articles

D-TAT transporter as an ocular peptide delivery system.

Schorderet DF, Manzi V, Canola K, Bonny C, Arsenijevic Y, Munier FL, Maurer F.

Clin Experiment Ophthalmol. 2005 Dec;33(6):628-35.PMID: 16402957 [PubMed - indexed for MEDLINE]Related articles

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

Nichini O, Manzi V, Munier FL, Schorderet DF.

Ophthalmic Genet. 2005 Dec;26(4):169-73.PMID: 16352477 [PubMed - indexed for MEDLINE]Related articles

Keratoepithelin in secondary corneal amyloidosis.

Suesskind D, Auw-Haedrich C, Schorderet DF, Munier FL, Loeffler KU.

Graefes Arch Clin Exp Ophthalmol. 2006 Jun;244(6):725-31. Epub 2005 Dec 6.PMID: 16331487 [PubMed - indexed for MEDLINE]Related articles

Association Down syndrome-retinoblastoma: a new observation.

Satgè D, Schorderet DF, Balmer A, Beck-Popovic M, Addor MC, Beckmann JS, Munier FL.

Ophthalmic Genet. 2005 Sep;26(3):151-2. No abstract available. PMID: 16272063 [PubMed - indexed for MEDLINE]Related articles

Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro.

Angénieux B, Schorderet DF, Arsenijevic Y.

Stem Cells. 2006 Mar;24(3):696-706. Epub 2005 Sep 22.PMID: 16179425 [PubMed - indexed for MEDLINE]Related articlesFree article

Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation.

Zencak D, Lingbeek M, Kostic C, Tekaya M, Tanger E, Hornfeld D, Jaquet M, Munier FL, Schorderet DF, van Lohuizen M, Arsenijevic Y.

J Neurosci. 2005 Jun 15;25(24):5774-83.PMID: 15958744 [PubMed - indexed for MEDLINE]Related articlesFree article