Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma
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
Published in Human molecular genetics (01.11.1997)
Published in Human molecular genetics (01.11.1997)
Get full text
Journal Article
A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features
Jñru, I, Van Eyck, L, Lagou, V, Ruuth-Praz, J, Copin, B, Cochet, E, Liston, A, Goris, A, Amselem, S, Wouters, C
Published in Pediatric rheumatology online journal (28.09.2015)
Published in Pediatric rheumatology online journal (28.09.2015)
Get full text
Journal Article
Novel erbia-yttria co-doped zirconia fluorescent thermal history sensor
Copin, E B, Massol, X, Amiel, S, Sentenac, T, Le Maoult, Y, Lours, P
Published in Smart materials and structures (01.01.2017)
Published in Smart materials and structures (01.01.2017)
Get full text
Journal Article
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma
Colomb, E, Nguyen, TD, Béchetoille, A, Dascotte, J-C, Valtot, F, Brézin, AP, Berkani, M, Copin, B, Gomez, L, Polansky, JR, Garchon, H-J
Published in Clinical genetics (01.09.2001)
Published in Clinical genetics (01.09.2001)
Get full text
Journal Article
Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer
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
Published in American journal of respiratory and critical care medicine (2016)
Get full text
Published in American journal of respiratory and critical care medicine (2016)
Journal Article
B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer
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
Published in American journal of respiratory and critical care medicine (01.01.2016)
Get full text
Published in American journal of respiratory and critical care medicine (01.01.2016)
Journal Article
PW01-032 – FMF-like state: genetic factors unrelated to MEFV
Babikyan, D, Jeru, I, Copin, B, Hayrapetyan, H, Amselem, S, Sarkisian, T
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
Get full text
Journal Article
Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene
Copin, Bruno, Brézin, Antoine P., Valtot, Françoise, Dascotte, Jean-Claude, Béchetoille, Alain, Garchon, Henri-Jean
Published in American journal of human genetics (01.06.2002)
Published in American journal of human genetics (01.06.2002)
Get full text
Journal Article
Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre: une nouvelle entité
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.
Published in Annales de dermatologie et de vénéréologie (01.12.2019)
Published in Annales de dermatologie et de vénéréologie (01.12.2019)
Get full text
Journal Article
P02-014 - Consequences of Arginine 92 mutations in TNFR1
Jéru, I, Charmion, S, Cochet, E, Copin, B, Le Borgne, G, Cathebras, P, Gaillat, J, Duquesnoy, P, Karabina, S, Hentgen, V, Amselem, S
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
Get full text
Journal Article
OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders
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
Published in Pediatric rheumatology online journal (08.11.2013)
Published in Pediatric rheumatology online journal (08.11.2013)
Get full text
Journal Article
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
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
Published in Cilia (16.11.2012)
Published in Cilia (16.11.2012)
Get full text
Journal Article
Conference Proceeding
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France
Brézin, A P, Adam, M F, Belmouden, A, Lureau, M A, Chaventré, A, Copin, B, Gomez, L, De Dinechin, S D, Berkani, M, Valtot, F, Rouland, J F, Dascotte, J C, Bach, J F, Garchon, H J
Published in American journal of medical genetics (13.04.1998)
Published in American journal of medical genetics (13.04.1998)
Get more information
Journal Article