A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
Cruaud, Corinne, Leibovici, Michel, Compain, Sylvie, Lacombe, Didier, Bitner-Glindzicz, Maria, Vigneron, Jacqueline, Boven, Katia, Petit, Christine, Charachon, Robert, Francis, Mary, Weil, Dominique, Regemorter, Nicole Van, Samson, Delphine, Weissenbach, Jean, Bedbeder, Philippe, Heilig, Roland, Sahly, Iman, Abdelhak, Sonia, Kalatzis, Vasiliki, Vincent, Christophe
Published in Nature genetics (01.02.1997)
Published in Nature genetics (01.02.1997)
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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene
Vincent, C, Kalatzis, V, Compain, S, Levilliers, J, Slim, R, Graia, F, Pereira, M L, Nivelon, A, Croquette, M F, Lacombe, D
Published in Human molecular genetics (1994)
Published in Human molecular genetics (1994)
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DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1
DELMAGHANI, Sedigheh, AGHAIE, Asadollah, COMPAIN-NOUAILLE, Sylvie, ATAIE, Afsaneh, LEMAINQUE, Arnaud, ZEINALI, Sirous, LATHROP, Mark, WEIL, Dominique, PETIT, Christine
Published in European journal of human genetics : EJHG (01.10.2003)
Published in European journal of human genetics : EJHG (01.10.2003)
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Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1
Abdelhak, Sonia, Kalatzis, Vasiliki, Heilig, Roland, Compain, Sylvie, Samson, Delphine, Vincent, Christophe, Levi-Acobas, Fabienne, Cruaud, Corinne, Le Merrer, Martine, Mathieu, Michèle, König, Rainer, Vigneron, Jacqueline, Weissenbach, Jean, Petit, Christine, Weil, Dominique
Published in Human molecular genetics (01.12.1997)
Published in Human molecular genetics (01.12.1997)
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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
Legouis, Renaud, Hardelin, Jean-Pierre, Levilliers, Jacqueline, Claverie, Jean-Michel, Compain, Sylvia, Wunderle, Véronique, Millasseau, Philippe, Le Paslier, Denis, Cohen, Daniel, Caterina, Dominique, Bougueleret, Lydie, Delemarre-Van de Waal, Henriette, Lutfalla, Georges, Weissenbach, Jean, Petit, Christine
Published in Cell (18.10.1991)
Published in Cell (18.10.1991)
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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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X Chromosome-Linked Kallmann Syndrome: Stop Mutations Validate the Candidate Gene
Hardelin, Jean-Pierre, Levilliers, Jacqueline, del Castillo, Ignacio, Cohen-Salmon, Martine, Legouis, Renaud, Blanchard, Stephane, Compain, Sylvie, Bouloux, Pierre, Kirk, Jeremy, Moraine, Claude, Chaussain, Jean-Louis, Weissenbach, Jean, Petit, Christine
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1992)
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1992)
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Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome: Volume34,Number 3 (1996), pages 422–425
Kalatzis, Vasiliki, Abdelhak, Sonia, Compain, Sylvie, Vincent, Christophe, Petit, Christine
Published in Genomics (San Diego, Calif.) (15.11.1996)
Published in Genomics (San Diego, Calif.) (15.11.1996)
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Journal Article
Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome
Kalatzis, Vasiliki, Abdelhak, Sonia, Compain, Sylvie, Vincent, Christophe, Petit, Christine
Published in Genomics (San Diego, Calif.) (15.06.1996)
Published in Genomics (San Diego, Calif.) (15.06.1996)
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Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome
Kalatzis, Vasiliki, Abdelhak, Sonia, Compain, Sylvie, Vincent, Christophe, Petit, Christine
Published in Genomics (San Diego, Calif.) (15.11.1996)
Published in Genomics (San Diego, Calif.) (15.11.1996)
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Construction of a Yeast Artificial Chromosome Contig Spanning the Pseudoautosomal Region and Isolation of 25 New Sequence-Tagged Sites
Slim, Rima, Le Paslier, Denis, Compain, Sylvie, Levilliers, Jacqueline, Ougen, Pierre, Billault, Alain, Donohue, Susan J., Klein, David C., Mintz, Liat, Bernheim, Alain, Cohen, Daniel, Weissenbach, Jean, Petit, Christine
Published in Genomics (San Diego, Calif.) (01.06.1993)
Published in Genomics (San Diego, Calif.) (01.06.1993)
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Deficits héréditaires de l'audition chez l'enfant
Ayadi, Hammadi, Belkahia, Ali, Benarab, Saida, Chaib, Hassan, Chardenoux, Sébastien, Compain, Sylvie, Dodé, Catherine, Drira, Mohamed, Zir, Elie El, Kalatzis, Viki, Levilliers, Jacqueline, Loiselet, Jacques, Marlin, Sandrine, Place, Christophe, Salem, Nabiha, Vincent, Christophe, Petit, Christine
Published in Annales de l'Institut Pasteur. Actualités (1995)
Published in Annales de l'Institut Pasteur. Actualités (1995)
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