Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Sylvie Simonin"'
Autor:
Arienne Mirmiran, Antoine Poli, Cecile Ged, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Raêd Daher, Boualem Moulouel, Katell Peoc'h, Sylvie Simonin, Jean-Marc Blouin, Jean-Charles Deybach, Gaël Nicolas, Hervé Puy, Emmanuel Richard, Laurent Gouya
Publikováno v:
Haematologica, Vol 106, Iss 3 (2020)
Externí odkaz:
https://doaj.org/article/3018d12d818e44ffa5ca8c1e5ce3ef91
Autor:
Antoine Poli, Caroline Schmitt, Thibaud Lefebvre, Hana Manceau, Boualem Moulouel, Arienne Mirmiran, Katell Peoc'h, Sylvie Simonin, Hervé Puy, Vincent Oustric, Zoubida Karim, Jean-Jacques Lacapère, Jean-Charles Deybach, Hugo Lenglet, Raed Daher, Gaël Nicolas, Laurent Gouya
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.341-347. ⟨10.1016/j.ajhg.2018.12.021⟩
Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4802adc34cc0a201ba831d3bae76f44
https://doi.org/10.1016/j.ajhg.2018.12.021
https://doi.org/10.1016/j.ajhg.2018.12.021
Autor:
Nicolas Poté, René Farcy, Hervé Puy, Fouad Lafdil, Charlotte Benoit, Jean-Charles Deybach, J. Calderaro, E. Itti, Laurent Gouya, Caroline Schmitt, Aurélie Rodrigues, Valérie Vilgrain, Sébastien Mulé, Valérie Paradis, Cécile Charpy, Alain Luciani, Sylvie Simonin
Publikováno v:
European radiology. 32(4)
To assess the performance of 405 nm-induced autofluorescence for the characterization of primary liver nodules on ex vivo resected specimens.Forty resected liver specimens bearing 53 primary liver nodules were included in this IRB-approved prospectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2295619b33b3e08716a458bd286ae15c
https://pubmed.ncbi.nlm.nih.gov/34694452
https://pubmed.ncbi.nlm.nih.gov/34694452
Autor:
Cécile Ged, Hervé Puy, Jean-Charles Deybach, Laurent Gouya, Raed Daher, Boualem Moulouel, Arienne Mirmiran, Emmanuel Richard, Thibaud Lefebvre, Gaël Nicolas, Caroline Schmitt, Katell Peoc'h, Sylvie Simonin, Hana Manceau, Jean-Marc Blouin, Antoine Poli
Publikováno v:
Haematologica
Haematologica, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
Haematologica, Ferrata Storti Foundation, In press, pp.haematol.2019.228270. ⟨10.3324/haematol.2019.228270⟩
International audience; Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by impaired activity of uroporphyrinogen III synthase, the fourth enzyme of the heme biosynthetic pathway. Massive accumulation of porphyri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f182c22ab3e6ab8e57170a616c33a84
https://www.hal.inserm.fr/inserm-02441267/document
https://www.hal.inserm.fr/inserm-02441267/document
Autor:
Sverre Sandberg, Marta Vorland, Karen Toska, Caroline Schmitt, Sylvie Simonin, Juha P. Kallio, Helene J. Bustad, Lars Skjærven, Philippe Lettéron, Aurora Martinez, Jarl Underhaug
Publikováno v:
Molecular Therapy
Molecular Therapy, Cell Press, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩
Molecular Therapy, Nature Publishing Group, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩
Molecular Therapy, Cell Press, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩
Molecular Therapy, Nature Publishing Group, 2019, ⟨10.1016/j.ymthe.2019.11.010⟩
Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors triggers life-threatening neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15e6d9c3687f0457d8260f8bbe7de21
https://pubmed.ncbi.nlm.nih.gov/31810863
https://pubmed.ncbi.nlm.nih.gov/31810863
Autor:
Jérôme Lamoril, Caroline Schmitt, Zoubida Karim, Gaël Nicolas, Sylvie Simonin, Enrique Casalino, Hugo Lenglet, A. M. Robreau, Jean-Charles Deybach, Thomas Grange, Hana Manceau, Florian Bouchet-Crivat, Hervé Puy, Narjesse Karboul, Laurent Gouya, Katell Peoc'h, Arienne Mirmiran
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩
International audience; Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incompl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::660beae6582994fa1997a439bd1f4f8a
https://pubmed.ncbi.nlm.nih.gov/29360981
https://pubmed.ncbi.nlm.nih.gov/29360981
Autor:
Willy Dabin, Florence Caurant, Vasco Da Silva, Vincent Ridoux, Paco Bustamante, Sami Hassani, Jérôme Spitz, Lionel Lafontaine, Cécile Delcroix, Sylvie Simonin, Olivier Van Canneyt, Michel Robert, L. Meynier
Publikováno v:
Aquatic Living Resources
Aquatic Living Resources, EDP Sciences, 2004, 17, pp.379-387. ⟨10.1051/alr:2004031⟩
Aquatic Living Resources, EDP Sciences, 2004, 17, pp.379-387. ⟨10.1051/alr:2004031⟩
International audience; Oil spills can have direct effects on organisms (mortality or morbidity), indirect effects (through alteration of lower trophic levels) or be associated to exposure to trace elements contained in oil (markers). An effect of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61b7aa2a743be189128d9ec5c9f6f95
https://doi.org/10.1051/alr:2004031
https://doi.org/10.1051/alr:2004031
Autor:
Hervé Puy, Jean Charles Deybach, L. N. Phung, V. Da Silva, Sylvie Simonin, Yves Nordmann, C. Bonaiti, A. M. Robreau
Publikováno v:
Journal of Internal Medicine. 242:213-217
Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC (Centre Francais des Porphyries, Hopital Louis Mourier, Colombes Cedex, France, and the Institut Gustave Roussy, Cedex, France). Acute intermittent porphyria: preva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772afb51064ea3cea5a35957a574ebfb
https://doi.org/10.1046/j.1365-2796.1997.00189.x
https://doi.org/10.1046/j.1365-2796.1997.00189.x
Autor:
Jean Lesage, Pierre Collinet, Serge Mordon, Anne-Marie Gevaert, Laurie Guyon, Sylvie Simonin, Caroline Schmitt, M.O. Farine
Publikováno v:
Photodiagnosis and photodynamic therapy. 11(3)
Summary Context While photodynamic therapy (PDT) is a promising treatment for peritoneal carcinomatosis, its use is often limited because of the toxicity of photosensitizers. In this study, safety of PDT with hexaminoevulinate (HAL), a second generat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c911fb600243df10ba91122b07886126
https://pubmed.ncbi.nlm.nih.gov/24784431
https://pubmed.ncbi.nlm.nih.gov/24784431
Publikováno v:
Clinica Chimica Acta. 238:163-168
Variegate porphyria (VP) is a dominantly inherited acute hepatic porphyria characterized by a 50% decrease in activity of protoporphyrinogen oxidase (PO) which catalyses the last step of heme biosynthesis. In VP families, most of the gene carriers ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ec449547c98437db4fc69b23cd0f97
https://doi.org/10.1016/0009-8981(95)06085-r
https://doi.org/10.1016/0009-8981(95)06085-r