Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Tiffany Ghiotti"'
Autor:
S. Derrien, M. Bernardelli, C. Prévot, C. Burin des Roziers, Jean-Paul Bonnefont, Georges Caputo, Hélène Dollfus, S. Valleix, Antoine P. Brézin, F. Metge, Matthieu P. Robert, Catherine Edelson, C. Fourrage, Jean-Michel Rozet, V. Layet, S. Michau, Pierre-Raphaël Rothschild, Sylvain Hanein, Dominique Bremond-Gignac, A. Barjol, Tiffany Ghiotti, Nathalie Delphin, C.A. Clément
Publikováno v:
Acta Ophthalmologica. 95
Summary Hereditary vitreoretinopathies (VRPs), traditionally divided into the groups of exudative and degenerative VRPs, encompass a number of diseases affecting the vitreous and the retina. These disorders are the commonest cause of inherited retina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49f0ad7f5e0f5eca7ef5af8b44c3718b
https://doi.org/10.1111/j.1755-3768.2017.02361
https://doi.org/10.1111/j.1755-3768.2017.02361
Autor:
Cyril Burin-des-Roziers, Pierre-Raphaël Rothschild, Antoine P. Brézin, S. Valleix, Frans P.M. Cremers, Céline Leroux, Tiffany Ghiotti, Valérie Layet, Jian-Min Chen
Publikováno v:
Human Mutation, 38, 1, pp. 43-47
Human Mutation, 38, 43-47
Human Mutation, 38, 43-47
Item does not contain fulltext Wagner disease is a rare nonsyndromic autosomal-dominant vitreoretinopathy, associated with splice mutations specifically targeting VCAN exon 8. We report the extensive genetic analysis of two Wagner probands, previousl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c94616ad4117c25802929d49dd6ce30
https://pubmed.ncbi.nlm.nih.gov/27667122
https://pubmed.ncbi.nlm.nih.gov/27667122
Autor:
Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint, Chrystel Leroy, Virginie Commere, Tiffany Ghiotti, Nathalie Deburgrave, Yoann Saillour, Isabelle Atlan, Corinne Fouveaut, Cherif Beldjord, Sophie Valleix, France Leturcq, Catherine Dodé, Thierry Bienvenu, Jamel Chelly, Mireille Cossée
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
International audience; he frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11b1d4c6797c9bd29cbc374e21bfa0
https://hal.umontpellier.fr/hal-02441701
https://hal.umontpellier.fr/hal-02441701
Autor:
Pierre-Raphaël, Rothschild, Antoine P, Brézin, Brigitte, Nedelec, Cyril, Burin des Roziers, Tiffany, Ghiotti, Lucie, Orhant, Mathieu, Boimard, Sophie, Valleix
Publikováno v:
Molecular Vision
Purpose To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Methods Eight available family members underwent complete ophthalmologic examination, including laser flare ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::252a1bd10bf0102408017f292b3645dd
https://pubmed.ncbi.nlm.nih.gov/24174867
https://pubmed.ncbi.nlm.nih.gov/24174867
Autor:
Isabelle Audo, Pierre-Raphaël Rothschild, Claire Monin, Brigitte Nedelec, Tiffany Ghiotti, Antoine P. Brézin, Sophie Valleix
Publikováno v:
JAMA Ophthalmology. 131:805
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d656bca10114fa02db8c332c14ef1bc6
https://doi.org/10.1001/jamaophthalmol.2013.681
https://doi.org/10.1001/jamaophthalmol.2013.681