Search Results - Colin, Estelle

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing by Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent

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Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy by Charif, Majida, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia

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Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series by Riquin, Elise, Le Nerzé, Thomas, Pasquini, Natwin, Barth, Magalie, Prouteau, Clément, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud

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Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series by Riquin, Elise, Barth, Magalie, Le Nerzé, Thomas, Pasquini, Natwin, Prouteau, Clement, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder by Morgan, Angela, Braden, Ruth, Wong, Maggie M. K., Colin, Estelle, Amor, David, Liégeois, Frederique, Srivastava, Siddharth, Vogel, Adam, Bizaoui, Varoona, Ranguin, Kara, Fisher, Simon E., van Bon, Bregje W.

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ACO2 clinicobiological dataset with extensive phenotype ontology annotation by Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc

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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome by Colin, Estelle, Huynh Cong, Evelyne, Mollet, Géraldine, Guichet, Agnès, Gribouval, Olivier, Arrondel, Christelle, Boyer, Olivia, Daniel, Laurent, Gubler, Marie-Claire, Ekinci, Zelal, Tsimaratos, Michel, Chabrol, Brigitte, Boddaert, Nathalie, Verloes, Alain, Chevrollier, Arnaud, Gueguen, Naig, Desquiret-Dumas, Valérie, Ferré, Marc, Procaccio, Vincent, Richard, Laurence, Funalot, Benoit, Moncla, Anne, Bonneau, Dominique, Antignac, Corinne

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis by Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy by Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? by Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F.

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy by Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, Bonneau, Dominique

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum by Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes by Putoux, Audrey, Thomas, Sophie, Coene, Karlien L M, Davis, Erica E, Alanay, Yasemin, Ogur, Gönül, Uz, Elif, Buzas, Daniela, Gomes, Céline, Patrier, Sophie, Bennett, Christopher L, Elkhartoufi, Nadia, Frison, Marie-Hélène Saint, Rigonnot, Luc, Joyé, Nicole, Pruvost, Solenn, Utine, Gulen Eda, Boduroglu, Koray, Nitschke, Patrick, Fertitta, Laura, Thauvin-Robinet, Christel, Munnich, Arnold, Cormier-Daire, Valérie, Hennekam, Raoul, Colin, Estelle, Akarsu, Nurten Ayse, Bole-Feysot, Christine, Cagnard, Nicolas, Schmitt, Alain, Goudin, Nicolas, Lyonnet, Stanislas, Encha-Razavi, Férechté, Siffroi, Jean-Pierre, Winey, Mark, Katsanis, Nicholas, Gonzales, Marie, Vekemans, Michel, Beales, Philip L, Attié-Bitach, Tania

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder by Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reinders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder by Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, the DDD study, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities by Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing by Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations by Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation by Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis by Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel, Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Wallen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

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