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Publikováno v:
Journal of Cataract and Refractive Surgery. 31:750-756
Purpose To evaluate the results of cataract extraction without primary intraocular lens (IOL) implantation in children. Setting Ophthalmology Unit, University Hospital, Strasbourg, France. Methods This retrospective study comprised 157 congenital cat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b64956ae3caa8a8b044f320f3ca4eba
https://doi.org/10.1016/j.jcrs.2004.08.048
https://doi.org/10.1016/j.jcrs.2004.08.048
Publikováno v:
EMC - Ophtalmologie. 1:1-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d914b566f5fddac3e8bafea9475ddec6
https://doi.org/10.1016/s0246-0343(00)00043-5
https://doi.org/10.1016/s0246-0343(00)00043-5
Autor:
M. Abu-Eid, F. Veillon, F Bediard Boulaneb, Renaud Quillet, Sophie Riehm, JJ Francfort, Claude Speeg-Schatz, Fabienne Perrin-Schmitt, W Lahlou Boukoffa, Hélène Dollfus, Corinne Stoetzel, Jacques Flament
Publikováno v:
Clinical Genetics. 63:117-120
The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d30e95727154ca903d92c48f22f8107
https://doi.org/10.1034/j.1399-0004.2003.00011.x
https://doi.org/10.1034/j.1399-0004.2003.00011.x
Autor:
Hélène Dollfus, Anne de Saint-Martin, Jacques Flament, Michel Fischbach, Geneviève Mack, Francis Veillon, David Minn, Mylène Eliot, Yves Alembik, Dominique Christmann
Publikováno v:
American Journal of Medical Genetics. 109:211-217
Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative proc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1759a4c976da03ac1df09f7611df5f0
https://doi.org/10.1002/ajmg.10348
https://doi.org/10.1002/ajmg.10348
Autor:
David Olivier, Jacques Flament, Raffaella Gallai, Claude Speeg-Schatz, Patrick Calvas, Marie-Claire Vincent, Hélène Dollfus
Publikováno v:
American journal of ophthalmology. 138(6)
Purpose Several ocular defects have been identified as a consequence of the PAX6 gene mutations. With regard to the implication of this gene in unusual phenotypes, we report a family presenting with congenital nystagmus, foveal hypoplasia, and iris h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96bbdc4dbff834cd2a22b1e81e77e33b
https://pubmed.ncbi.nlm.nih.gov/15629294
https://pubmed.ncbi.nlm.nih.gov/15629294
Autor:
Odile Villard, Florence Roch-Deries, Jacques Flament, Justus G. Garweg, Ermanno Candolfi, Denis Filisetti
Ocular toxoplasmosis is the major cause of posterior uvetis in European populations. The clinical diagnosis of toxoplasmic chorioretinitis is based upon ophthalmoscopic findings, which are often but not always typical. Laboratory testing is therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bccf18ff60ab75b579f7604ef3ef2fb8
https://europepmc.org/articles/PMC179817/
https://europepmc.org/articles/PMC179817/
Autor:
Patrick Caussade, Hélène Dollfus, Alain Sarasin, Claude Speeg-Schatz, José Sahel, Jacques Flament, Edouard Grosshans, Fernanda Belga Ottoni Porto
Publikováno v:
Survey of ophthalmology. 48(1)
Deoxyribonucleic acid (DNA) repair is a fundamental process designed to keep the integrity of genomic DNA that is continuously challenged by intrinsic or environmental induced alterations. Numerous genes involved in DNA repair have been cloned and ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a94360e0e7ec8753aaf5ddd3a49d0b
https://pubmed.ncbi.nlm.nih.gov/12559331
https://pubmed.ncbi.nlm.nih.gov/12559331
Autor:
Marie-Josèphe Sterboul, Patricia Lewin, Jacques Flament, Hélène Dollfus, Fernanda Belga Ottoni Porto, Geneviève Mack, José Sahel
Publikováno v:
American journal of ophthalmology. 132(6)
PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. METHODS: Observational case series. A 42-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1957e790169f984550117d719a2e634
https://pubmed.ncbi.nlm.nih.gov/11730668
https://pubmed.ncbi.nlm.nih.gov/11730668
Autor:
Erik L. Greve, Jean-Luc George, Alain M. Bron, Frans P. Gunning, Erik A. Lippa, Jean G. Royer, Coleen Clineschmidt, F. Brunner-Ferber, Agnes Buntinx, Pierre Lesure, Jacques Flament, Daniel Sirbat, Deborah L. Panebianco, Claude Bénichou
Publikováno v:
Archives of Ophthalmology-New Series
Archives of Ophthalmology-New Series-, American Medical Association, 1991, 109 (1), pp.50-53
Archives of Ophthalmology-New Series-, American Medical Association, 1991, 109 (1), pp.50-53
International audience; The multiple-dose twice-daily efficacy of the topical carbonic anhydrase inhibitor MK-927, a racemic compound, was compared with that of its pharmacologically more active S-enantiomer in a four-center, double-masked, randomize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d86317842da61275edcfd15efa8b3a
https://hal.inrae.fr/hal-02712312
https://hal.inrae.fr/hal-02712312