2 documents found, page 1 of 1
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification ...
Coppieters, F; Casteels, I; Meire, F; De Jaegere, S; Hooghe, S; van Regemorter, N; Van Esch, H; Matuleviciene, A; Nunes, L; Meersschaut, V; Walraedt, SLeber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset ret...
THE ASTEROSEISMIC POTENTIAL OF KEPLER: FIRST RESULTS FOR SOLAR-TYPE STARS
Chaplin, WJ; Appourchaux, T; Elsworth, Y; Garcia, RA; Houdek, G; Karoff, C; Metcalfe, TS; Molenda Zakowicz, J; Monteiro, MJPFG; Thompson, MJ; Brown, TMWe present preliminary asteroseismic results from Kepler on three G-type stars. The observations, made at one-minute cadence during the first 33.5 days of science operations, reveal high signal-to-noise solar-like oscillation spectra in all three stars: about 20 modes of oscillation may be clearly distinguished in each star. We discuss the appearance of the oscillation spectra, use the frequencies and frequency...