检索结果 - Bitoun, Pierre

Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease 由 Bitoun, Pierre

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AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC 由 Marie, Sandrine, Heron, Bénédicte, Bitoun, Pierre, Timmerman, Thérèse, Van den Berghe, Georges, Vincent, Marie-Françoise

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Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia 由 Brémond-Gignac, Dominique, Bitoun, Pierre, Reis, Linda M., Copin, Henri, Murray, Jeffrey C., Semina, Elena V.

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma 由 Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia 由 Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia 由 Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies 由 Delahaye, Andrée, Bitoun, Pierre, Drunat, Séverine, Gérard-Blanluet, Marion, Chassaing, Nicolas, Toutain, Annick, Verloes, Alain, Gatelais, Frédérique, Legendre, Marie, Faivre, Laurence, Passemard, Sandrine, Aboura, Azzedine, Kaltenbach, Sophie, Quentin, Samuel, Dupont, Céline, Tabet, Anne-Claude, Amselem, Serge, Elion, Jacques, Gressens, Pierre, Pipiras, Eva, Benzacken, Brigitte

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia 由 Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder 由 Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina

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The supplementary motor area modulates interhemispheric interactions during movement preparation 由 Welniarz, Quentin, Gallea, Cécile, Lamy, Jean‐Charles, Méneret, Aurélie, Popa, Traian, Valabregue, Romain, Béranger, Benoît, Brochard, Vanessa, Flamand‐Roze, Constance, Trouillard, Oriane, Bonnet, Cécilia, Brüggemann, Norbert, Bitoun, Pierre, Degos, Bertrand, Hubsch, Cécile, Hainque, Elodie, Golmard, Jean‐Louis, Vidailhet, Marie, Lehéricy, Stéphane, Dusart, Isabelle, Meunier, Sabine, Roze, Emmanuel

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Identification of CANT1 Mutations in Desbuquois Dysplasia 由 Huber, Céline, Oulès, Bénédicte, Bertoli, Marta, Chami, Mounia, Fradin, Mélanie, Alanay, Yasemin, Al-Gazali, Lihadh I., Ausems, Margreet G.E.M., Bitoun, Pierre, Cavalcanti, Denise P., Krebs, Alexander, Le Merrer, Martine, Mortier, Geert, Shafeghati, Yousef, Superti-Furga, Andrea, Robertson, Stephen P., Le Goff, Carine, Muda, Andrea Onetti, Paterlini-Bréchot, Patrizia, Munnich, Arnold, Cormier-Daire, Valérie

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Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... 由 Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nürnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernández-Martínez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C. M., von der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nürnberg, Peter, Reis, André, Rauch, Anita

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CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders 由 Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G., Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre, Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P. M., Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T., Kohl, Susanne

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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy 由 Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle, Bitoun, Pierre, Petit, Jean-Michel, Odent, Sylvie, Amiel, Jeanne, Picot, Damien, Carmignac, Virginie, Thevenon, Julien, Callier, Patrick, Laville, Martine, Reznik, Yves, Fagour, Cédric, Nunes, Marie-Laure, Capeau, Jacqueline, Lascols, Olivier, Huet, Frédéric, Faivre, Laurence, Vigouroux, Corinne, Rivière, Jean-Baptiste

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Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases 由 Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects 由 Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect 由 McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 由 McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance 由 Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, de Villemeur, Thierry Billette, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome 由 Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.

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