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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion
Published in Proceedings of the National Academy of Sciences - PNAS (28.02.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (28.02.2023)
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Journal Article
DYRK1A mutations in two unrelated patients
Ruaud, Lyse, Mignot, Cyril, Guët, Agnès, Ohl, Christelle, Nava, Caroline, Héron, Delphine, Keren, Boris, Depienne, Christel, Benoit, Valérie, Maystadt, Isabelle, Lederer, Damien, Amsallem, Daniel, Piard, Juliette
Published in European journal of medical genetics (01.03.2015)
Published in European journal of medical genetics (01.03.2015)
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Journal Article
Further refinement of COL4A1 and COL4A2 related cortical malformations
Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype
Nguyen, Toan, Heide, Solveig, Guilbaud, Lucie, Valence, Stéphanie, Perre, Saskia Vande, Blondiaux, Eléonore, Keren, Boris, Quenum‐Miraillet, Geneviève, Jouannic, Jean‐Marie, Mandelbrot, Laurent, Picone, Olivier, Guet, Agnès, Tsatsaris, Vassilis, Milh, Mathieu, Girard, Nadine, Vincent, Marie, Nizon, Mathilde, Poirsier, Céline, Vivanti, Alexandre, Benachi, Alexandra, Portes, Vincent des, Guibaud, Laurent, Patat, Olivier, Spentchian, Myrtille, Frugère, Lisa, Héron, Delphine, Garel, Catherine
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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Journal Article
Antenatal diagnosis of absence of septum pellucidum
Ben M'Barek, Imane, Tassin, Mikael, Guët, Agnes, Simon, Isabelle, Mairovitz, Valerie, Mandelbrot, Laurent, Picone, Olivier
Published in Clinical case reports (01.03.2020)
Published in Clinical case reports (01.03.2020)
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Journal Article
Type I hyperprolinemia: genotype/phenotype correlations
Guilmatre, Audrey, Legallic, Solenn, Steel, Gary, Willis, Alecia, Di Rosa, Gabriella, Goldenberg, Alice, Drouin-Garraud, Valérie, Guet, Agnès, Mignot, Cyril, Des Portes, Vincent, Valayannopoulos, Vassili, Van Maldergem, Lionel, Hoffman, Jodi D, Izzi, Claudia, Espil-Taris, Caroline, Orcesi, Simona, Bonafé, Luisa, Le Galloudec, Eric, Maurey, Hélène, Ioos, Christine, Afenjar, Alexandra, Blanchet, Patricia, Echenne, Bernard, Roubertie, Agathe, Frebourg, Thierry, Valle, David, Campion, Dominique
Published in Human mutation (01.08.2010)
Published in Human mutation (01.08.2010)
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Journal Article
Web Resource
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, Meyer, Pierre, Genevieve, David, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Guët, Agnès, Scalais, Emmanuel, Dorison, Nathalie, Myers, Candace T., Mefford, Heather C., Howell, Katherine B., Marini, Carla, Freeman, Jeremy L., Nica, Anca, Terrone, Gaetano, Sekhara, Tayeb, Lebre, Anne‐Sophie, Odent, Sylvie, Sadleir, Lynette G., Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
Doummar, Diane, Clot, Fabienne, Vidailhet, Marie, Afenjar, Alexandra, Durr, Alexandra, Brice, Alexis, Mignot, Cyril, Guet, Agnès, de Villemeur, Thierry Billette, Rodriguez, Diana
Published in Movement disorders (30.04.2009)
Published in Movement disorders (30.04.2009)
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Journal Article
Early neurological phenotype in 4 children with biallelic PRODH mutations
Afenjar, Alexandra, Moutard, Marie-Laure, Doummar, Diane, Guët, Agnés, Rabier, Daniel, Vermersch, Anne-Isabelle, Mignot, Cyril, Burglen, Lydie, Heron, Delphine, Thioulouse, Elizabeth, de Villemeur, Thierry Billette, Campion, Dominique, Rodriguez, Diana
Published in Brain & development (Tokyo. 1979) (01.10.2007)
Published in Brain & development (Tokyo. 1979) (01.10.2007)
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Journal Article
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N., Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Journal Article
Parental view of epilepsy in Rett Syndrome
Nadia, Bahi-Buisson, Isabelle, Guellec, Rima, Nabbout, Agnès, Guet, Gérard, Nguyen, Olivier, Dulac, Catherine, Chiron
Published in Brain & development (01.02.2008)
Published in Brain & development (01.02.2008)
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Journal Article
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies
Héron, Delphine, Gerasimenko, Anna, Frugère, Lisa, Ducourneau, Jade, Rossi, Capucine, Nava, Caroline, de Sainte-Agathe, Jean-Madeleine, Mignot, Cyril, Lehalle, Daphné, Grotto, Sarah, El-Khattabi, Laila, Nguyen, Toan, Garel, Catherine, Blondiaux, Eleonore, Milh, Mathieu, Desnous, Béatrice, Girard, Nadine, des Portes, Vincent, Guibaud, Laurent, Sabatier, Isabelle, Patat, Olivier, Julia, Sophie, Benachi, Alexandra, Vivanti, Alexandre, Picone, Olivier, Guet, Agnès, Nizon, Mathilde, Vincent, Marie, Conrad, Solène, Le Vaillant, Claudine, Billette de Villemeur, Thierry, Moutton, Sébastien, Tsatsaris, Vassilis, Guilbaud, Lucie, Jouannic, Jean-Marie, Valence, Stéphanie, Keren, Boris, Heide, Solveig
Published in Brain (London, England : 1878) (04.09.2025)
Published in Brain (London, England : 1878) (04.09.2025)
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Journal Article
Severe Relapse of Epilepsy after Vigabatrin Withdrawal: For How Long Should We Treat Symptomatic Infantile Spasms?
Kröll‐Seger, Judith, Kaminska, Anna, Moutard, Marie Laure, De Saint‐Martin, Anne, Guët, Agnes, Dulac, Olivier, Chiron, Catherine
Published in Epilepsia (Copenhagen) (01.03.2007)
Published in Epilepsia (Copenhagen) (01.03.2007)
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Journal Article
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
Published in American journal of human genetics (06.04.2023)
Published in American journal of human genetics (06.04.2023)
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Journal Article
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Journal Article
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency
Egloff, Charles, Eldin de Pecoulas, Aurelia, Mechler, Charlotte, Tassin, Mikael, Mairovitz, Valerie, Corrizi, Frederic, Dussaux, Chloe, Boutron, Audrey, Simon, Isabelle, Guet, Agnes, Sibiude, Jeanne, Mandelbrot, Laurent, Picone, Olivier
Published in Prenatal diagnosis (01.07.2018)
Published in Prenatal diagnosis (01.07.2018)
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Journal Article
De novo mutations in KIF1A in 2 patients with congenital ataxia
Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril, Guet, Agnes, Keren, Boris, Valence, Stephanie, Garel, Catherine, Burglen, Lydie
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article