Publications 2007
-
PDFPubmed
Calcium-sensing Receptor Attenuates AVP-induced Aquaporin-2 Expression via a Calmodulin-dependent Mechanism.
Bustamante M, Hasler U, Leroy V, de Seigneux S, Dimitrov M, Mordasini D, Rousselot M, Martin PY, Féraille E.
J Am Soc Nephrol. 19(1):109-116,2008 (Epub 2007, November 21) -
PDFPubmed
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. 48(11):5160-7,2007 -
PDFPubmed
Ten novel RB1 gene mutations in patients with retinoblastoma.
Abouzeid H, Munier FL, Thonney F, Schorderet DF.
Molecular Vision 13:1740-1745,2007 -
PDFPubmed
Study of a Swiss Dopa-Responsive Dystonia Family with a Deletion in GCH1 redefining DYT14 as DYT5.
Wider CW, 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 FJG.
Neurology. 2007 Sep 5; [Epub ahead of print] -
PDFPubmed
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. -
PDFPubmed
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):1083-1084. -
PDFPubmed
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. 11(2):286-98,2007. -
Pubmed
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 Monatsbl Augenheilkd. 224(4):340-343,2007. -
PDFPubmed
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neuro-developmental abnormalities.
Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Cattin F, Tattu L, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.
Molec Vision 13:511-523,2007 -
PDFPubmed
Novel mutations in FRMD7 in X-linked congenital nystagmus.
Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL.
Hum Mutat. 2007 Mar 30;28(5):525 -
PDFPubmed
Retinopathy in Danon disease.
Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL.
Arch Ophthalmol. 2007 Feb;125(2):231-6. -
PDFPubmed
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 -
PDFPubmed
Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate.
Canola K, Angenieux B, Tekaya M, Quiambao A, Naash MI, Munier FL, Schorderet DF, Arsenijevic Y.
Invest Ophthalmol Vis Sci. 2007 Jan;48(1):446-54. -
PDF
Forward scattering measurement device with ahigh angular resolution.
Rosskamp D, Truffer F, Bolay S, Geiser M.
Optics Express 2007 15(5)2683-2690.
