Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sylvain Bolay"'
Autor:
Francis Nan, André Mégarbané, Bernard Thilo, Christian P. Hamel, Eliane Chouery, Francis L. Munier, Daniel F. Schorderet, Bozena Polok, Pascal Escher, Aude Ambresin, Isabelle Meunier, Sylvain Bolay
Publikováno v:
American journal of human genetics, vol. 84, no. 2, pp. 259-65
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab428f0e1f6a4d57e120a298a9f02d41
Publikováno v:
Optics express. 15(5)
A new optical device to measure forward scattered light in a range of 3 degrees to 20 degrees has been developed and tested. The scattered light is focused on a plane where its axial position is proportional to the scattered angle theta. A motorized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac86260ab71c4bfb9e1b3c09c8d4ca6
https://pubmed.ncbi.nlm.nih.gov/19532505
https://pubmed.ncbi.nlm.nih.gov/19532505
Autor:
Francis L. Munier, Françoise Meire, Sylvain Bolay, Daniel F. Schorderet, Nihal ElShakankiri, Ihab Osman, Hana Abouzeid
Publikováno v:
Ophthalmology. 116:154-162.e1
Objective To report a novel phenotype of autosomal dominant atypical congenital cataract associated with variable expression of microcornea, microphthalmia, and iris coloboma linked to chromosome 2. Molecular analysis of this phenotype may improve ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b486f1c0e0a071a6f69f0f49bcd160
https://doi.org/10.1016/j.ophtha.2008.08.044
https://doi.org/10.1016/j.ophtha.2008.08.044
Autor:
Leila Tiab, Joanna E. Merriam, Chih Cheng Tsai, Jana Zernant, Pascal Escher, Francis L. Munier, Rando Allikmets, Shiming Chen, Sylvain Bolay, Peter Gouras, Tania Delarive, M. Hayashi, Nicolas Mermod, Raphaël Roduit, Daniel F. Schorderet
Publikováno v:
Human mutation
Human Mutation, vol. 30, no. 3, pp. 342-351
Human Mutation, vol. 30, no. 3, pp. 342-351
NR2E3, a photoreceptor, specific nuclear receptor (PNR), represses cone-specific genes and activates several rod-specific genes. In humans, mutations in NR2E3 have been associated with the recessively-inherited enhanced short-wavelength sensitive Sco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4e099827b7ebe894c1bc0be079d3f5
https://infoscience.epfl.ch/record/160001
https://infoscience.epfl.ch/record/160001
