X Chromosome-Linked Kallmann Syndrome: Clinical Heterogeneity in Three Siblings Carrying an Intragenic Deletion of the KAL-1 Gene
Massin, Nathalie, Pêcheux, Christophe, Eloit, Corinne, Bensimon, Jean-Louis, Galey, Julie, Kuttenn, Frédérique, Hardelin, Jean-Pierre, Dodé, Catherine, Touraine, Philippe
Published in The journal of clinical endocrinology and metabolism (01.05.2003)
Published in The journal of clinical endocrinology and metabolism (01.05.2003)
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
Charnay, Théo, Blanck, Véronique, Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Bonello-Palot, Nathalie, Pécheux, Christophe, Nguyen, Karine, Lévy, Nicolas, Gorokhova, Svetlana, Krahn, Martin
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
Dodé, Catherine, Hazenberg, Bouke PC, Pêcheux, Christophe, Cattan, Daniel, Moulin, Bruno, Barthélémy, Anne, Gubler, Marie‐Claire, Delpech, Marc, Grateau, Gilles
Published in Nephrology, dialysis, transplantation (01.07.2002)
Published in Nephrology, dialysis, transplantation (01.07.2002)
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A novel CRYAB mutation resulting in multisystemic disease
Sacconi, Sabrina, Féasson, Léonard, Antoine, Jean Christophe, Pécheux, Christophe, Bernard, Rafaelle, Cobo, Ana Maria, Casarin, Alberto, Salviati, Leonardo, Desnuelle, Claude, Urtizberea, Andoni
Published in Neuromuscular disorders : NMD (01.01.2012)
Published in Neuromuscular disorders : NMD (01.01.2012)
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Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks
Didic, Mira, Felician, Olivier, Gour, Natalina, Bernard, Rafaelle, Pécheux, Christophe, Mundler, Olivier, Ceccaldi, Mathieu, Guedj, Eric
Published in European journal of nuclear medicine and molecular imaging (01.09.2015)
Published in European journal of nuclear medicine and molecular imaging (01.09.2015)
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
Krahn, Martin, Wein, Nicolas, Bartoli, Marc, Lostal, William, Courrier, Sébastien, Bourg-Alibert, Nathalie, Nguyen, Karine, Vial, Christophe, Streichenberger, Nathalie, Labelle, Véronique, DePetris, Danielle, Pécheux, Christophe, Leturcq, France, Cau, Pierre, Richard, Isabelle, Lévy, Nicolas
Published in Science translational medicine (22.09.2010)
Published in Science translational medicine (22.09.2010)
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Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial
Bertucci, François, Gonçalves, Anthony, Guille, Arnaud, Adelaïde, José, Garnier, Séverine, Carbuccia, Nadine, Billon, Emilien, Finetti, Pascal, Sfumato, Patrick, Monneur, Audrey, Pécheux, Christophe, Khran, Martin, Brunelle, Serge, Mescam, Lenaïg, Thomassin-Piana, Jeanne, Poizat, Flora, Charafe-Jauffret, Emmanuelle, Turrini, Olivier, Lambaudie, Eric, Provansal, Magali, Extra, Jean-Marc, Madroszyk, Anne, Gilabert, Marine, Sabatier, Renaud, Vicier, Cécile, Mamessier, Emilie, Chabannon, Christian, Pakradouni, Jihane, Viens, Patrice, André, Fabrice, Gravis, Gwenaelle, Popovici, Cornel, Birnbaum, Daniel, Chaffanet, Max
Published in Genome medicine (18.05.2021)
Published in Genome medicine (18.05.2021)
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Soussi-Yanicostas, Nadia, Baverel, Françoise, Dupont, Jean-Michel, Cabrol, Sylvie, Levilliers, Jacqueline, Bouchard, Philippe, Kottler, Marie-Laure, Sanchez-Franco, Franco, Delmaghani, Sedigheh, Petit, Christine, Hardelin, Jean-Pierre, Delpech, Marc, De Paepe, Anne, Carel, Jean-Claude, Compain-Nouaille, Sylvie, Richard, Odile, Young, Jacques, Coimbra, Roney S, Goulet-Salmon, Barbara, Cruaud, Corinne, Le Tessier, Dominique, Vermeulen, Stefan, Delemarre-van de Waal, Henriette, Le Dû, Nathalie, Speleman, Frank, Saura, Robert, Bachelot, Yvan, Dodé, Catherine, Amalfitano, Andrea, Pêcheux, Christophe
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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CAPN3 mutations in patients with idiopathic eosinophilic myositis
Krahn, Martin, Lopez De Munain, Adolfo, Streichenberger, Nathalie, Bernard, Rafaëlle, Pécheux, Christophe, Testard, Hervé, Pena-Segura, José L., Yoldi, Eugenia, Cabello, Ana, Romero, Norma B., Poza, Juan J., Bouillot-Eimer, Sandrine, Ferrer, Xavier, Goicoechea, Maria, Garcia-Bragado, Federico, Leturcq, France, Urtizberea, J. Andoni, Lévy, Nicolas
Published in Annals of neurology (01.06.2006)
Published in Annals of neurology (01.06.2006)
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Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy
Xi, Jianying, Blandin, Gaelle, Lu, Jiahong, Luo, Sushan, Zhu, Wenhua, Béroud, Christophe, Pécheux, Christophe, Labelle, Véronique, Lévy, Nicolas, Urtizberea, Jon Andoni, Zhao, Chongbo, Krahn, Martin
Published in Neurology India (01.11.2014)
Published in Neurology India (01.11.2014)
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Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR
Krahn, Martin, Borges, Ana, Navarro, Claire, Schuit, Robert, Stojkovic, Tanya, Torrente, Yvan, Wein, Nicolas, Pécheux, Christophe, Lévy, Nicolas
Published in Genetic testing and molecular biomarkers (01.08.2009)
Published in Genetic testing and molecular biomarkers (01.08.2009)
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Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
Mansour, I, Delague, V, Cazeneuve, C, Dodé, C, Chouery, E, Pêcheux, C, Medlej-Hashim, M, Salem, N, El Zein, L, Levan-Petit, I, Lefranc, G, Goossens, M, Delpech, M, Amselem, S, Loiselet, J, Grateau, G, Mégarbane, A, Naman, R
Published in European journal of human genetics : EJHG (01.01.2001)
Published in European journal of human genetics : EJHG (01.01.2001)
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The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor–associated periodic syndrome
Dodé, Catherine, André, Marc, Bienvenu, Thierry, Hausfater, Pierre, Pêcheux, Christophe, Bienvenu, Jacques, Lecron, Jean‐Claude, Reinert, Philippe, Cattan, Daniel, Piette, Jean‐Charles, Szajnert, Marie‐France, Delpech, Marc, Grateau, Gilles
Published in Arthritis and rheumatism (01.08.2002)
Published in Arthritis and rheumatism (01.08.2002)
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Screening of the CAPN3 gene in patients with possible LGMD2A
Krahn, Martin, Bernard, Rafaëlle, Pécheux, Christophe, Hammouda, El Hadi, Eymard, Bruno, Munain, Adolfo Lopez de, Cobo, Anna Maria, Romero, Norma, Urtizberea, Andoni, Leturcq, France, Lévy, Nicolas
Published in Clinical genetics (01.05.2006)
Published in Clinical genetics (01.05.2006)
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MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications
Cazeneuve, Cécile, Sarkisian, Tamara, Pêcheux, Christophe, Dervichian, Michel, Nédelec, Brigitte, Reinert, Philippe, Ayvazyan, Alexandre, Kouyoumdjian, Jean-Claude, Ajrapetyan, Hasmik, Delpech, Marc, Goossens, Michel, Dodé, Catherine, Grateau, Gilles, Amselem, Serge
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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Non-Founder Mutations in the MEFV Gene Establish This Gene as the Cause of Familial Mediterranean Fever (FMF)
Bernot, Alain, da Silva, Corinne, Petit, Jean-Louis, Cruaud, Corinne, Caloustian, Christophe, Castet, Valérie, Ahmed-Arab, Mehdi, Dross, Christiane, Dupont, Madeleine, Cattan, Daniel, Smaoui, Nizar, Dodé, Catherine, Pêcheux, Christophe, Nédelec, Brigitte, Medaxian, Jean, Rozenbaum, Michel, Rosner, Itshak, Delpech, Marc, Grateau, Gilles, Demaille, Jacques, Weissenbach, Jean, Touitou, Isabelle
Published in Human molecular genetics (01.08.1998)
Published in Human molecular genetics (01.08.1998)
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
Charnay, Théo, Blanck, Véronique, Cerino, Mathieu, Bartoli, Marc, Riccardi, Florence, Bonello-Palot, Nathalie, Pécheux, Christophe, Nguyen, Karine, Lévy, Nicolas, Gorokhova, Svetlana, Krahn, Martin
Published in Genetics in medicine (2021)
Published in Genetics in medicine (2021)
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Homozygosity in Huntington’s disease
DÜRR, ALEXANDRA, HAHN-BARMA, VALÉRIE, BRICE, ALEXIS, PÊCHEUX, CHRISTOPHE, DODÉ, CATHERINE, FEINGOLD, JOSUÉ
Published in Journal of medical genetics (01.02.1999)
Published in Journal of medical genetics (01.02.1999)
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Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
LACOSTE, CAROLINE, DESVIGNES, JEAN-PIERRE, SALGADO, DAVID, PECHEUX, CHRISTOPHE, VILLARD, LAURENT, BARTOLI, MARC, BEROUD, CHRISTOPHE, LEVY, NICOLAS, BADENS, CATHERINE, KRAHN, MARTIN
Published in Journal of genetics (01.03.2016)
Published in Journal of genetics (01.03.2016)
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