Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Brigitte Nedelec"'
Publikováno v:
Human Genetics. 138:937-955
Ocular developmental anomalies are among the most common causes of severe visual impairment in newborns (combined incidence 1-2:10,000). They comprise a wide range of inborn errors of eye development with a spectrum of overlapping phenotypes and they
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d862e7993b8ed80f47881bd647d751e9
https://doi.org/10.1007/s00439-019-02052-2
https://doi.org/10.1007/s00439-019-02052-2
Publikováno v:
Genes
Genes, MDPI, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩
Genes, Vol 12, Iss 624, p 624 (2021)
Genes, MDPI, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩
Genes, Vol 12, Iss 624, p 624 (2021)
International audience; Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576d1dbc95beb1d15ea0f8107fb99517
https://doi.org/10.3390/genes12050624
https://doi.org/10.3390/genes12050624
Autor:
Vincent Morinière, Matthieu P. Robert, D. Lacombe, C. Burin des Roziers, Dominique Bremond-Gignac, L. Hoffart, Marc Muraine, Caroline Beugnet, Bernard Delbosc, Christian P. Hamel, Brigitte Nedelec, J.L. Bourges, S. Valleix, C. Fourrage
Publikováno v:
Acta Ophthalmologica. 95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a5b568756493a1490f6b59d01a7e32b
https://doi.org/10.1111/j.1755-3768.2017.02661
https://doi.org/10.1111/j.1755-3768.2017.02661
Autor:
Ahmet Dogan, S. Valleix, Gilles Grateau, Nathalie Rioux-Leclercq, Franck Bridoux, Renan Goude, Jean Doucet, Cyrille Garnier, F. Briki, Philippe Derreumaux, Marc Delpech, Patrick Le Pogamp, Brigitte Nedelec, Laurent Martin, Caroline Beugnet
Publikováno v:
Blood
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. 〈10.1182/blood-2017-07-796185〉
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. 〈10.1182/blood-2017-07-796185〉
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
International audience; The first case of hereditary fibrinogen A alpha-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78719ea460bf43d3e88b8fc9e51145d6
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01688181/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01688181/document
Autor:
D. Bossie-Codreanu, Candice Lagny, Daniel Broseta, J. Berthiaud, Brigitte Nedelec, Samuel Saysset, Aurélien Leynet, Etienne Brosse, Didier Bonijoly, Christophe Rigollet, S. Fillacier, Y. Le Gallo, Ana Sofia Campos, Anne Bialkowski, Alain Bonneville, Vincent Lagneau, A. Fradet, D. Rambourg, Pierre Roux, A.L. Auzende, Gilles Munier, Minh Ha-Duong, Zbigniew Pokryszka, G. Bureau
Publikováno v:
Energy Procedia
Greenhouse Gas Control Technologies 9, Proceedings of the 9th International Conference on Greenhouse Gas Control Technologies (GHGT-9)
Greenhouse Gas Control Technologies 9, Proceedings of the 9th International Conference on Greenhouse Gas Control Technologies (GHGT-9), Nov 2008, Washington, United States. pp.2809-2816, ⟨10.1016/j.egypro.2009.02.053⟩
9. International Conference on Greenhouse Gas Control Technologies (GHGT 9)
9. International Conference on Greenhouse Gas Control Technologies (GHGT 9), Nov 2008, Washington DC, United States
Greenhouse Gas Control Technologies 9, Proceedings of the 9th International Conference on Greenhouse Gas Control Technologies (GHGT-9)
Greenhouse Gas Control Technologies 9, Proceedings of the 9th International Conference on Greenhouse Gas Control Technologies (GHGT-9), Nov 2008, Washington, United States. pp.2809-2816, ⟨10.1016/j.egypro.2009.02.053⟩
9. International Conference on Greenhouse Gas Control Technologies (GHGT 9)
9. International Conference on Greenhouse Gas Control Technologies (GHGT 9), Nov 2008, Washington DC, United States
International audience; The METSTOR project offers a methodology to look for potentially interesting CO2 storage areas in France at the initial stage, before the "site selection" step. Our tool, embodied in a Geographic Information System, is based o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c63f200a4273b1ed31930b12f08380
Autor:
Brigitte Nedelec, Antoine P. Brézin, Pierre-Raphaël Rothschild, Sophie Valleix, Cyril Burin-des-Roziers, Isabelle Audo
Publikováno v:
American journal of ophthalmology. 160(5)
Purpose To evaluate the spectrum of morphologic abnormalities in patients with Wagner syndrome by spectral-domain optical coherence tomography (SD OCT). Design Retrospective comparative case study. Methods Institutional study of patients entered into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3d38b736bf6cf333483528cdc39e39
https://pubmed.ncbi.nlm.nih.gov/26284746
https://pubmed.ncbi.nlm.nih.gov/26284746
Autor:
Alexandre Ayvazyan, Serge Amselem, Philippe Reinert, Michel Dervichian, Jean Claude Kouyoumdjian, Christophe Pêcheux, Cécile Cazeneuve, Michel Goossens, Hasmik Ajrapetyan, Tamara Sarkisian, Marc Delpech, Gilles Grateau, Catherine Dodé, Brigitte Nedelec
Publikováno v:
The American Journal of Human Genetics. 65:88-97
SummaryFamilial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be95bdd1dcea8397a22776f39b63772b
https://doi.org/10.1086/302459
https://doi.org/10.1086/302459
Autor:
null The French FMF Consortium, Alain Bernot, Christian Clepet, Corinne Dasilva, Catherine Devaud, Jean-Louis Petit, Christophe Caloustian, Corinne Cruaud, Delphine Samson, Françoise Pulcini, Jean Weissenbach, Roland Heilig, Cécile Notanicola, Cécile Domingo, Michael Rozenbaum, Eldad Benchetrit, Rezzan Topaloglu, Marie Dewalle, Christiane Dross, Philippe Hadjari, Madeleine Dupont, Jacques Demaille, Isabelle Touitou, Nizar Smaoui, Brigitte Nedelec, Jean-Philippe Méry, Habiba Chaabouni, Marc Delpech, Gilles Grateau
Publikováno v:
Nature Genetics. 17:25-31
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d047a09d88be8a8e517126c2fc1af6a
https://doi.org/10.1038/ng0997-25
https://doi.org/10.1038/ng0997-25
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:
Jean-Michel Goujon, Mathieu Boimard, Corinne Lacombe, Violaine Planté-Bordeneuve, Philip N. Hawkins, Monica Stoppini, Julie A. Vrana, Mark B. Pepys, Guy Touchard, Vittorio Bellotti, Riccardo Porcari, Thierry Maisonobe, Franck Bridoux, Sophie Valleix, Julian D. Gillmore, Ahmet Dogan, Martino Bolognesi, Jason D. Theis, Pierre Lozeron, Sofia Giorgetti, Marc Delpech, Catherine Lacroix, Stefano Ricagno, David H. Adams, Brigitte Nedelec, Palma Mangione
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. ⟨10.1056/NEJMoa1201356⟩
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. 〈10.1056/NEJMoa1201356〉
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. ⟨10.1056/NEJMoa1201356⟩
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. 〈10.1056/NEJMoa1201356〉
International audience; We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β(2)-microglobulin. Unli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18435b30031fa045cb32f5f7758d6d3
https://hal.archives-ouvertes.fr/hal-00945706
https://hal.archives-ouvertes.fr/hal-00945706