Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β2-Microglobulin
Valleix, Sophie, Gillmore, Julian D, Bridoux, Frank, Mangione, Palma P, Dogan, Ahmet, Nedelec, Brigitte, Boimard, Mathieu, Touchard, Guy, Goujon, Jean-Michel, Lacombe, Corinne, Lozeron, Pierre, Adams, David, Lacroix, Catherine, Maisonobe, Thierry, Planté-Bordeneuve, Violaine, Vrana, Julie A, Theis, Jason D, Giorgetti, Sofia, Porcari, Riccardo, Ricagno, Stefano, Bolognesi, Martino, Stoppini, Monica, Delpech, Marc, Pepys, Mark B, Hawkins, Philip N, Bellotti, Vittorio
Published in The New England journal of medicine (14.06.2012)
Published in The New England journal of medicine (14.06.2012)
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Journal Article
Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans
Valleix, Sophie, Niel, Florence, Nedelec, Brigitte, Algros, Marie-Paule, Schwartz, Claire, Delbosc, Bernard, Delpech, Marc, Kantelip, Bernadette
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Journal Article
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
Valleix, Sophie, Verona, Guglielmo, Jourde-Chiche, Noémie, Nédelec, Brigitte, Mangione, P. Patrizia, Bridoux, Frank, Mangé, Alain, Dogan, Ahmet, Goujon, Jean-Michel, Lhomme, Marie, Dauteuille, Carolane, Chabert, Michèle, Porcari, Riccardo, Waudby, Christopher A., Relini, Annalisa, Talmud, Philippa J., Kovrov, Oleg, Olivecrona, Gunilla, Stoppini, Monica, Christodoulou, John, Hawkins, Philip N., Grateau, Gilles, Delpech, Marc, Kontush, Anatol, Gillmore, Julian D., Kalopissis, Athina D., Bellotti, Vittorio
Published in Nature communications (21.01.2016)
Published in Nature communications (21.01.2016)
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Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Erjavec, Elisa, Angée, Clémentine, Hadjadj, Djihad, Passet, Bruno, David, Pierre, Kostic, Corinne, Dodé, Emmanuel, Zanlonghi, Xavier, Cagnard, Nicolas, Nedelec, Brigitte, Crippa, Sylvain V., Bole-Feysot, Christine, Zarhrate, Mohammed, Creuzet, Sophie, Castille, Johan, Vilotte, Jean-Luc, Calvas, Patrick, Plaisancié, Julie, Chassaing, Nicolas, Kaplan, Josseline, Rozet, Jean-Michel, Taie, Lucas Fares
Published in American journal of human genetics (03.10.2024)
Published in American journal of human genetics (03.10.2024)
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Journal Article
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Erjavec, Elisa, Angée, Clémentine, Hadjadj, Djihad, Passet, Bruno, David, Pierre, Kostic, Corinne, Dodé, Emmanuel, Zanlonghi, Xavier, Cagnard, Nicolas, Nedelec, Brigitte, Crippa, Sylvain, Bole-Feysot, Christine, Zarhrate, Mohammed, Creuzet, Sophie, Castille, Johan, Vilotte, Jean-Luc, Calvas, Patrick, Plaisancié, Julie, Chassaing, Nicolas, Kaplan, Josseline, Rozet, Jean-Michel, Taie, Lucas Fares
Published in American journal of human genetics (01.10.2024)
Published in American journal of human genetics (01.10.2024)
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Journal Article
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants
Garnier, Cyrille, Briki, Fatma, Nedelec, Brigitte, Le Pogamp, Patrick, Dogan, Ahmet, Rioux-Leclercq, Nathalie, Goude, Renan, Beugnet, Caroline, Martin, Laurent, Delpech, Marc, Bridoux, Frank, Grateau, Gilles, Doucet, Jean, Derreumaux, Philippe, Valleix, Sophie
Published in Blood (21.12.2017)
Published in Blood (21.12.2017)
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Journal Article
Congenital Microcoria: Clinical Features and Molecular Genetics
Angée, Clémentine, Nedelec, Brigitte, Erjavec, Elisa, Rozet, Jean-Michel, Fares Taie, Lucas
Published in Genes (22.04.2021)
Published in Genes (22.04.2021)
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Journal Article
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes
Rothschild, Pierre-Raphael, Burin-des-Roziers, Cyril, Audo, Isabelle, Nedelec, Brigitte, Valleix, Sophie, Brézin, Antoine P
Published in American journal of ophthalmology (01.11.2015)
Published in American journal of ophthalmology (01.11.2015)
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Journal Article
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants: VLITL explains the molecular basis of Aα-chain amyloidogenesis
Garnier, Cyrille, Briki, Fatma, Nedelec, Brigitte, Le Pogamp, Patrick, Dogan, Ahmet, Rioux-Leclercq, Nathalie, Goude, Renan, Beugnet, Caroline, Martin, Laurent, Delpech, Marc, Bridoux, Frank, Grateau, Gilles, Doucet, Jean, Derreumaux, Philippe, Valleix, Sophie
Published in Blood (21.12.2017)
Published in Blood (21.12.2017)
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Journal Article
A family with Wagner syndrome with uveitis and a new versican mutation
Rothschild, Pierre-Raphaël, Brézin, Antoine P, Nedelec, Brigitte, Burin des Roziers, Cyril, Ghiotti, Tiffany, Orhant, Lucie, Boimard, Mathieu, Valleix, Sophie
Published in Molecular vision (26.09.2013)
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Published in Molecular vision (26.09.2013)
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A candidate gene for familial Mediterranean fever
The French FMF Consortium, Bernot, Alain, Clepet, Christian, Dasilva, Corinne, Devaud, Catherine, Petit, Jean-Louis, Caloustian, Christophe, Cruaud, Corinne, Samson, Delphine, Pulcini, Françoise, Weissenbach, Jean, Heilig, Roland, Notanicola, Cécile, Domingo, Cécile, Rozenbaum, Michael, Benchetrit, Eldad, Topaloglu, Rezzan, Dewalle, Marie, Dross, Christiane, Hadjari, Philippe, Dupont, Madeleine, Demaille, Jacques, Touitou, Isabelle, Smaoui, Nizar, Nedelec, Brigitte, Méry, Jean-Philippe, Chaabouni, Habiba, Delpech, Marc, Grateau, Gilles
Published in Nature genetics (01.09.1997)
Published in Nature genetics (01.09.1997)
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Journal Article
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features
Brézin, Antoine P, Nedelec, Brigitte, Barjol, Amandine, Rothschild, Pierre-Raphael, Delpech, Marc, Valleix, Sophie
Published in Molecular vision (2011)
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Published in Molecular vision (2011)
Journal Article
Hereditary Systemic Amyloidosis Due to Asp76Asn Variant β 2 -Microglobulin
Valleix, Sophie, Gillmore, Julian D., Bridoux, Frank, Mangione, Palma P., Dogan, Ahmet, Nedelec, Brigitte, Boimard, Mathieu, Touchard, Guy, Goujon, Jean-Michel, Lacombe, Corinne, Lozeron, Pierre, Adams, David, Lacroix, Catherine, Maisonobe, Thierry, Planté-Bordeneuve, Violaine, Vrana, Julie A., Theis, Jason D., Giorgetti, Sofia, Porcari, Riccardo, Ricagno, Stefano, Bolognesi, Martino, Stoppini, Monica, Delpech, Marc, Pepys, Mark B., Hawkins, Philip N., Bellotti, Vittorio
Published in The New England journal of medicine (14.06.2012)
Published in The New England journal of medicine (14.06.2012)
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Journal Article
H244R VSX1 Is Associated with Selective Cone ON Bipolar Cell Dysfunction and Macular Degeneration in a PPCD Family
Valleix, Sophie, Nedelec, Brigitte, Rigaudiere, Florence, Dighiero, Paul, Pouliquen, Yves, Renard, Gilles, Le Gargasson, Jean-Francois, Delpech, Marc
Published in Investigative ophthalmology & visual science (01.01.2006)
Published in Investigative ophthalmology & visual science (01.01.2006)
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Journal Article
X-linked congenital ataxia: A new locus maps to Xq25-q27.1
Zanni, Ginevra, Bertini, Enrico, Bellcross, Cecelia, Nedelec, Brigitte, Froyen, Guy, Neuhäuser, Gerhard, Opitz, John M., Chelly, Jamel
Published in American journal of medical genetics. Part A (01.03.2008)
Published in American journal of medical genetics. Part A (01.03.2008)
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Journal Article
METHODS AND PHARMACEUTICAL COMPOSITIONS FOR TREATING OCULAR DISEASES
ANGEE, Clémentine, FARES TAIE, Lucas, ROZET, Jean-Michel, NEDELEC, Brigitte, KAPLAN, Josseline
Year of Publication 27.07.2023
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Year of Publication 27.07.2023
Patent
METHODS AND PHARMACEUTICAL COMPOSITIONS FOR TREATING OCULAR DISEASES
ANGEE, Clémentine, FARES TAIE, Lucas, ROZET, Jean-Michel, NEDELEC, Brigitte, KAPLAN, Josseline
Year of Publication 12.04.2023
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Year of Publication 12.04.2023
Patent
INTERLEUKIN 1 GENE CLUSTER POLYMORPHISMS IN MULTIPLEX FAMILIES WITH SPONDYLARTHROPATHIES
Djouadi, Kamila, Nedelec, Brigitte, Tamouza, Ryad, Genin, Emmanuelle, Ramasawmy, Ragen, Charron, Dominique, Delpech, Marc, Laoussadi, Saddek
Published in Cytokine (Philadelphia, Pa.) (21.01.2001)
Published in Cytokine (Philadelphia, Pa.) (21.01.2001)
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Journal Article
METHODS AND PHARMACEUTICAL COMPOSITIONS FOR TREATING OCULAR DISEASES
ANGEE, Clémentine, FARES TAIE, Lucas, ROZET, Jean-Michel, NEDELEC, Brigitte, KAPLAN, Josseline
Year of Publication 09.12.2021
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Year of Publication 09.12.2021
Patent