Search Results - "Copin, B."

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma by Adam, Marie F., Belmouden, Ahmed, Binisti, Philippe, Brézin, Antoine P., Valtot, Françoise, Béchetoille, Alain, Dascotte, Jean-Claude, Copin, Bruno, Gomez, Lucienne, Chaventré, André, Bach, Jean-François, Garchon, Henri-Jean

“…Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the…”
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A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features by Jñru, I, Van Eyck, L, Lagou, V, Ruuth-Praz, J, Copin, B, Cochet, E, Liston, A, Goris, A, Amselem, S, Wouters, C

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Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma by Colomb, E, Nguyen, TD, Béchetoille, A, Dascotte, J-C, Valtot, F, Brézin, AP, Berkani, M, Copin, B, Gomez, L, Polansky, JR, Garchon, H-J

“…Primary open‐angle glaucoma (POAG) is a highly prevalent optic neuropathy and a major cause of irreversible blindness, with elevation of intraocular pressure…”
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B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer by Nathan, N, Giraud, V, Picard, C, Nunes, H, Le Moal, F Dastot, Duquesnoy, P, Copin, B, Reynaud-Gaubert, M, Valeyre, D, Couderc, L-J, Chinet, T, Borie, R, Crestani, B, Nau, V, Tissier, S, Galeron, L, Ligniville, A De, Kuziner, N, Simansour, M, Hendili, L Mansour, Legendre, M, Kannengiesser, C, Coulomb, A, Gouya, L, Amselem, S, Clement, A

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Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer by Nathan, N., Giraud, V., Picard, C., Nunes, H., Le Moal, F. Ă Dastot, Duquesnoy, P., Copin, B., Reynaud-Gaubert, M., Ă Valeyre, D., Couderc, L. -J., Chinet, T., Borie, R., Ă Crestani, B., Nau, V., Tissier, S., Galeron, L., de Ă Ligniville, A., Kuziner, N., Simansour, M., Hendili, L. Mansour Ă, Legendre, M., Kannengiesser, C., Coulomb, A., Gouya, L., Ă Amselem, S., Clément, Annick

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PW01-032 – FMF-like state: genetic factors unrelated to MEFV by Babikyan, D, Jeru, I, Copin, B, Hayrapetyan, H, Amselem, S, Sarkisian, T

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Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene by Copin, Bruno, Brézin, Antoine P., Valtot, Françoise, Dascotte, Jean-Claude, Béchetoille, Alain, Garchon, Henri-Jean

“…Primary open-angle glaucoma (POAG) is an optic neuropathy that has a high worldwide prevalence and that shows strong evidence of complex inheritance. The…”
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Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre: une nouvelle entité by Assrawi, E., Louvrier, C., Lepelletier, C., Georgin-Lavialle, S., Bouaziz, J.-D., Awad, F., Moinet, F., Moguelet, P., Vignon-Pennamen, M.-D., Piterboth, W., Jumeau, C., Cobret, L., El Khoury, E., Copin, B., Duquesnoy, P., Legendre, M., Grateau, G., Karabina, S., Amselem, S., Giurgea, I.

“…L’urticaire neutrophilique fébrile (UNF) est associée à des maladies autoinflammatoires monogéniques (cryopyrinopathies liées à des mutations du gène NLRP3),…”
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P02-014 - Consequences of Arginine 92 mutations in TNFR1 by Jéru, I, Charmion, S, Cochet, E, Copin, B, Le Borgne, G, Cathebras, P, Gaillat, J, Duquesnoy, P, Karabina, S, Hentgen, V, Amselem, S

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OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders by Jéru, I, Cochet, E, Duquesnoy, P, Hentgen, V, Copin, B, Mitjavila-Garcia, M, Sheykholeslami, S, Le Borgne, G, Dastot, F, Karabina, S, Mahevas, M, Chantot-Bastaraud, S, Faivre, L, Amselem, S

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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia by Legendre, M, Blanchon, S, Copin, B, Duquesnoy, P, Montantin, G, Kott, E, Dastot, F, Jeanson, L, Cachanado, M, Rousseau, A, Papon, JF, Tamalet, A, Vojtek, AM, Escalier, D, Coste, A, de Blic, J, Clément, A, Escudier, E, Amselem, S

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Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France by Brézin, Antoine P., Adam, Marie F., Belmouden, Ahmed, Lureau, Marie-Aude, Chaventré, André, Copin, Bruno, Gomez, Lucienne, de Dinechin, Stéphane Dupont, Berkani, Merouane, Valtot, Françoise, Rouland, Jean-François, Dascotte, Jean-Claude, Bach, Jean-François, Garchon, Henri-Jean

“…Open‐angle glaucoma (POAG) is a highly prevalent cause of visual impairment. Six families grouping 71 living patients affected with juvenile‐onset and…”
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