ORIGINAL, PEER-REVIEWED ARTICLES - 2003

• Addor MC, Feldmeyer L, Hohlfeld J, Schorderet DF. [Epidemiology of lip-maxilla-palate clefts in the canton of Vaud]Rev Med Suisse Romande. 2003 Aug;123(8):501-5. French.

• Allaman-Pillet N, Storling J, Oberson A, Roduit R, Negri S, Sauser C, Nicod P, Beckmann JS, Schorderet DF, Mandrup-Poulsen T, Bonny C.  Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1. J Biol Chem. 2003 Dec 5;278(49):48720-6. Epub 2003 Sep 24.

• Borsello T, Clarke PG, Hirt L, Vercelli A, Repici M, Schorderet DF, Bogousslavsky J, Bonny C.  A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia. Nat Med. 2003 Sep;9(9):1180-6. Epub 2003 Aug 24.

• Morand S, Buchillier V, Maurer F, Bonny C, Arsenijevic Y, Munier FL,Schorderet DF. Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3. Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2973-9.

• Kostic C, Chiodini F, Salmon P, Wiznerowicz M, Deglon N, Hornfeld D, Trono D, Aebischer P, Schorderet DF, Munier FL, Arsenijevic Y. Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina. Gene Ther. 2003 May;10(9):818-21.

• Perrin Y, Addor MC, Sekarski N, Gaide AC, Schorderet DF. Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature. Ann Genet. 2002 Oct-Dec;45(4):173-5. Review.

• Kuntzer T, Dunand M, Schorderet DF, Vallat JM, Hahn AF, Bogousslavsky J. Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy. J Neurol Sci. 2003 Mar 15;207(1-2):77-86.

 

 

• Jiao X, Munier FL, Schorderet DF, Zografos L, Smith J, Rubin B, Hejtmancik JF. Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35. Hum Genet. 2003 May;112(5-6):593-9. Epub 2003 Feb 27.

• Schorderet DF, Addor MC, Maeder P, Roulet E, Junier L. Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation. Genet Couns. 2002;13(4):441-7.

• Addor MC, Castagne C, Micheli JL, Schorderet DF. Partial trisomy 20q in a newborn with dextrocardia.Genet Couns. 2002;13(4):433-40.

• Arsenijevic Y, Taverney N, Kostic C, Tekaya M, Riva F, Zografos L, Schorderet D, Munier F. Non-neural regions of the adult human eye: a potential source of neurons? Invest Ophthalmol Vis Sci. 2003 Feb;44(2):799-807. PMID: 12556416 [PubMed - indexed for MEDLINE]

• Buerk DG, Atochin DN, Riva CE. Investigating the role of nitric oxide in regulating blood flow and oxygen delivery from in vivo electrochemical measurements in eye and brain. Adv Exp Med Biol. 2003;530:359-70.

• Dorner GT, Garhofer G, Huemer KH, Riva CE, Wolzt M, Schmetterer L. Hyperglycemia affects flicker-induced vasodilation in the retina of healthy subjects. Vision Res. 2003 Jun;43(13):1495-500.

• Dorner GT, Garhofer G, Kiss B, Polska E, Polak K, Riva CE, Schmetterer L. Nitric oxide regulates retinal vascular tone in humans. Am J Physiol Heart Circ Physiol. 2003 Aug;285(2):H631-6. Epub 2003 May 15.

• Lovasik JV, Kergoat H, Riva CE, Petrig BL, Geiser M. Choroidal blood flow during exercise-induced changes in the ocular perfusion pressure.Invest Ophthalmol Vis Sci. 2003 May;44(5):2126-32.

• Lochhead J, Movaffaghy A, Falsini B, Winstanley PA, Mberu EK, Riva CE, Molyneux ME, Taylor TE, Harding SP. The effect of quinine on the electroretinograms of children with pediatric cerebral malaria. J Infect Dis. 2003 Apr 15;187(8):1342-5.

• Chamot SR, Cranstoun SD, Petrig BL, Pournaras CJ, Riva CE. Blood pO2 and blood flow at the optic disc. J Biomed Opt. 2003 Jan;8(1):63-9.

• Logean E, Schmetterer L, Riva CE. Velocity profile of red blood cells in human retinal vessels by confocal scanning laser Doppler velocimetry. Laser Phys 13(1)45-51, 2003.

 

 

ORIGINAL, PEER-REVIEWED ARTICLES - 2004

 

 

• Allaman-Pillet N, Roduit R, Oberson A, Abdelli S, Ruiz J, Beckmann JS, Schorderet DF, Bonny C. Circadian regulation of islet genes involved in insulin production and secretion. Mol Cell Endocrinol. 2004 Oct 29;226(1-2):59-66.

• Chiambaretta F, Pilon F, Deriot JB, Gerard M, Couleangon ML, Schorderet DF, Kemeny JL, Dastugue B, Creveaux I, Rigal D. [Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis] J Fr Ophtalmol. 2004 May;27(5):449-56. French.

• Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Heon E, Munier FL. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci. 2004 May;45(5):1436-41.

• Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q,Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817-26. Epub 2004 Mar 23.

• Tiab L, d'Alleves Manzi V, Borruat FX, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004 Dec;25(4):241-6.

• Riva CE, Salgarello T, Logean E, Colotto A, Galan EM, Falsini B. Flicker-evoked response measured at the optic disc rim is reduced in ocular hypertension and early glaucoma. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3662-8.

• Pournaras CJ, Riva CE, Bresson-Dumont H, De Gottrau P, Bechetoille A. Regulation of optic nerve head blood flow in normal tension glaucoma patients. Eur J Ophthalmol. 2004 May-Jun;14(3):226-35.

• Crittin M, Riva CE. Functional imaging of the human papilla and peripapillary region based on flicker-induced reflectance changes. Neurosci Lett. 2004 Apr 9;360(3):141-4.

• Riva CE, Logean E, Falsini B. Temporal dynamics and magnitude of the blood flow response at the optic disk in normal subjects during functional retinal flicker-stimulation. Neurosci Lett. 2004 Feb 12;356(2):75-8.

• Longo A, Geiser MH, Riva CE. Posture changes and subfoveal choroidal blood flow. Invest Ophthalmol Vis Sci. 2004 Feb;45(2):546-51.

• Riva CE, Logean E, Falsini B. Visually evoked hemodynamical response and assessment of neurovascular coupling in the optic nerve and retina. Prog Retin Eye Res 24(2): 183-215, 2004.

• Ferrez PW, Chamot SR, Petrig BL, Pournaras CJ, Riva CE. Klin Monatsbl Augenheilkd 221(5):364-366, 2004.

 

 

 

ORIGINAL, PEER-REVIEWED ARTICLES - 2005

 

• Schorderet DF, Manzi V, Canola K, Bonny C, Arsenijevic Y, Munier FL, Maurer F. D-TAT transporter as an ocular peptide delivery system. Clin Experiment Ophthalmol. 2005 Dec;33(6):628-35.

• Nichini O, Manzi V, Munier FL, Schorderet DF. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. Ophthalmic Genet. 2005 Dec;26(4):169-73.

• Satge D, Schorderet DF, Balmer A, Beck-Popovic M, Addor MC, Beckmann JS, Munier FL. Association Down syndrome-retinoblastoma: a new observation. Ophthalmic Genet. 2005 Sep;26(3):151-2. No abstract available.

• Zencak D, Lingbeek M, Kostic C, Tekaya M, Tanger E, Hornfeld D, Jaquet M, Munier FL, Schorderet DF, van Lohuizen M, Arsenijevic Y. Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation. J Neurosci. 2005 Jun 15;25(24):5774-83.

• Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA, Forster RK, Hejtmancik JF, Schorderet DF. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. Am J Hum Genet. 2005 Jul;77(1):54-63. Epub 2005 May 18.

• Lobrinus JA, Schorderet DF, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, Jeannet PY. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Neuromuscul Disord. 2005 Apr;15(4):293-8.

• Stix B, Leber M, Bingemer P, Gross C, Ruschoff J, Fandrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A, Rocken C. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1133-9.

• Gaillard MC, Wolfensberger TJ, Uffer S, Mantel I, Pournaras JA, Schorderet DF, Munier FL. Optical coherence tomography in Malattia Leventinese. Klin Monatsbl Augenheilkd. 2005 Mar;222(3):180-5. French.

• Gruter O, Kostic C, Crippa SV, Perez MT, Zografos L, Schorderet DF, Munier FL, Arsenijevic Y. Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier. Gene Ther. 2005 Jun;12(11):942-7.

• Diaper CJ, Schorderet DF, Chaubert P, Munier FL. Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation. Eye. 2005 Jan;19(1):92-6.

• Suskind D, Auw-Haedrich C, Schorderet DF, Munier FL, Loeffler KU. Keratoepithelin in secondary corneal amyloidosis. Graefes Arch Clin Exp Ophthalmol. 2005 Dec 6;1-7. [Epub ahead of print]

• Stepinac TK, Chamot SR, Rungger-Brandle E, Ferrez P, Munoz JL, van den Bergh H, Riva CE, Pournaras CJ, Wagnieres GA. Light-induced retinal vascular damage by Pd-porphyrin luminescent oxygen probes. Invest Ophthalmol Vis Sci. 2005 Mar;46(3):956-66.

• Crittin M, Riva CE. Optic nerve and retinal reflectance changes in response to physiological stimuli. Optics and Lasers in Engineering 43 (2005) 583-589

• Logean E, Geiser MH, Riva CE. Laser Doppler instrument to investigate retinal neural activity-induced changes in optic nerve blood flow. Optics and Lasers in Engineering 43 (2005) 591-602.

 

 

ORIGINAL, PEER-REVIEWED ARTICLES - 2006

 

• Cottet S, Michaut L, Boisset G, Schlecht U, Gehring W, Schorderet DF. Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. FASEB J. 2006 Oct;20(12):2036-49.

• Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Matyas G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006  Oct;79(4):657-67. Epub 2006 Aug 23.

• El Kochairi I, Letovanec I, Uffer S, Munier FL, Chaubert P, Schorderet DF. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. Mol Vis. 2006 May 10;12:461-6.

• Becker J, Erdlenbruch B, Noskova I, Schramm A, Aumailley M, Schorderet DF, Schweigerer L. Keratoepithelin suppresses the progression of experimental human neuroblastomas. Cancer Res. 2006 May 15;66(10):5314-21.

• Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7.

• Mayeur H, Roche O, Vetu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Heon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M. Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet. 2006 Apr 28;7:41.

• El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL. Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene. Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1104-12. Epub 2006 Feb 28.

• Pournaras CJ, Logean E, Riva CE, Petrig BL, Chamot SR, Coscas G, Soubrane G.  Regulation of subfoveal choroidal blood flow in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1581-6.

 

 

Book Chapters 2003-2004-2005

 

• Laser Doppler techniques in ophthalmology: Principle and applications. Riva CE, Petrig BL. In Lasers in Ophthalmology – Basic, Diagnostic and Surgical Aspects, pp. 51-59, edited by Fankhauser F and Kwasniewskas, Kugler Publications (The Hague), 2003.

• Investigating the role of nitric oxide in regulating blood flow and oxygen delivery from in vivo electrochemical measurements in eye and brain. Buerk DG, Atochin DN, Riva CE. In Oxygen transport to tissue XXIV edited by Dunn and Swartz, Kluwer Academic/Plenum Publishers, 2003.

• Subfoveal choroidal blood flow and its regulation after verteporfin photodynamic therapy in choroidal neovascularization. Pournaras CJ, Riva CE, Logean E, Soubrane G. In Photodynamic Therapy of Ocular Diseases edited by Gragoudas ES, Miller JW, Zografos L, Lippincott Williams & Wilkins, New York, 2004.

• Méthodes d’investigation moléculaire des maladies génétiques. Dans Oeil et Génétique. Ed. J.L. Dufier & J. Kaplan. Masson, Masson, Issy-les-Moulineaux. pp 139-158, 2005.

• Dystrophies héréditaires de la cornée. Dans Oeil et Génétique. Ed. J.L. Dufier & J. Kaplan. Masson, Masson, Issy-les-Moulineaux. pp 139-158, 2005.