The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
BAHI-BUISSON, Nadia, POIRIER, Karine, LASCELLES, Karine, SOUVILLE, Isabelle, BELDJORD, Cherif, CHELLY, Jamel, FOURNIOL, Franck, SAILLOUR, Yoann, VALENCE, Stéphanie, LEBRUN, Nicolas, HULLY, Marie, BIANCO, Catherine Fallet, BODDAERT, Nathalie, ELIE, Caroline
Published in Brain (London, England : 1878) (01.06.2014)
Published in Brain (London, England : 1878) (01.06.2014)
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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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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François
Published in Human genetics (01.01.2022)
Published in Human genetics (01.01.2022)
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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Rama, Mélanie, Duflos, Claire, Melki, Isabelle, Bessis, Didier, Bonhomme, Axelle, Martin, Hélène, Doummar, Diane, Valence, Stéphanie, Rodriguez, Diana, Carme, Emilie, Genevieve, David, Heimdal, Ketil, Insalaco, Antonella, Franck, Nathalie, Queyrel-Moranne, Viviane, Tieulie, Nathalie, London, Jonathan, Uettwiller, Florence, Georgin-Lavialle, Sophie, Belot, Alexandre, Koné-Paut, Isabelle, Hentgen, Véronique, Boursier, Guilaine, Touitou, Isabelle, Sarrabay, Guillaume
Published in European journal of human genetics : EJHG (01.07.2018)
Published in European journal of human genetics : EJHG (01.07.2018)
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Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome
Taytard, Jessica, Valence, Stéphanie, Sileo, Chiara, Rodriguez, Diana, Bokov, Plamen, Aubertin, Guillaume, Corvol, Harriet, Beydon, Nicole
Published in Journal of clinical sleep medicine (15.12.2020)
Published in Journal of clinical sleep medicine (15.12.2020)
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Heide, Solveig, Argilli, Emanuela, Valence, Stéphanie, Boutaud, Lucile, Roux, Nathalie, Mignot, Cyril, Nava, Caroline, Keren, Boris, Giraudat, Kim, Faudet, Anne, Gerasimenko, Anna, Garel, Catherine, Blondiaux, Eleonore, Rastetter, Agnès, Grevent, David, Le, Carolyn, Mackenzie, Lisa, Richards, Linda, Attié-Bitach, Tania, Depienne, Christel, Sherr, Elliott, Héron, Delphine
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris
Published in eLife (17.01.2023)
Published in eLife (17.01.2023)
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Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Aubert Mucca, Marion, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Schluth-Bolard, Caroline, Diguet, Flavie, Chatron, Nicolas, Rollat-Farnier, Pierre-Antoine, Bardel, Claire, Afenjar, Alexandra, Amblard, Florence, Amiel, Jeanne, Blesson, Sophie, Callier, Patrick, Capri, Yline, Collignon, Patrick, Cordier, Marie-Pierre, Coubes, Christine, Demeer, Benedicte, Chaussenot, Annabelle, Demurger, Florence, Devillard, Françoise, Doco-Fenzy, Martine, Dupont, Céline, Dupont, Jean-Michel, Dupuis-Girod, Sophie, Faivre, Laurence, Gilbert-Dussardier, Brigitte, Guerrot, Anne-Marie, Houlier, Marine, Isidor, Bertrand, Jaillard, Sylvie, Joly-Hélas, Géraldine, Kremer, Valérie, Lacombe, Didier, Le Caignec, Cédric, Lebbar, Aziza, Lebrun, Marine, Lesca, Gaetan, Lespinasse, James, Levy, Jonathan, Malan, Valérie, Mathieu-Dramard, Michele, Masson, Julie, Masurel-Paulet, Alice, Mignot, Cyril, Missirian, Chantal, Morice-Picard, Fanny, Moutton, Sébastien, Nadeau, Gwenaël, Pebrel-Richard, Céline, Odent, Sylvie, Paquis-Flucklinger, Véronique, Pasquier, Laurent, Philip, Nicole, Plutino, Morgane, Pons, Linda, Portnoï, Marie-France, Prieur, Fabienne, Puechberty, Jacques, Putoux, Audrey, Rio, Marlène, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sarret, Catherine, Satre, Véronique, Siffroi, Jean-Pierre, Till, Marianne, Touraine, Renaud, Toutain, Annick, Toutain, Jérome, Valence, Stéphanie, Verloes, Alain, Whalen, Sandra, Edery, Patrick, Tabet, Anne-Claude, Sanlaville, Damien
Published in Journal of medical genetics (01.08.2019)
Published in Journal of medical genetics (01.08.2019)
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Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst
Chanclud, Justine, Valence, Stéphanie, Perre, Saskia Vande, Guilbaud, Lucie, Moutard, Marie-Laure, Jouannic, Jean-Marie, Ducou Le Pointe, Hubert, Blondiaux, Eléonore, Garel, Catherine
Published in Pediatric radiology (01.03.2023)
Published in Pediatric radiology (01.03.2023)
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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Poirier, Karine, Saillour, Yoann, Fourniol, Franck, Francis, Fiona, Souville, Isabelle, Valence, Stéphanie, Desguerre, Isabelle, Marie Lepage, Jean, Boddaert, Nathalie, Line Jacquemont, Marine, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia
Published in European journal of human genetics : EJHG (01.04.2013)
Published in European journal of human genetics : EJHG (01.04.2013)
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Valence, Stéphanie, Cochet, Emmanuelle, Rougeot, Christelle, Garel, Catherine, Chantot-Bastaraud, Sandra, Lainey, Elodie, Afenjar, Alexandra, Barthez, Marie-Anne, Bednarek, Nathalie, Doummar, Diane, Faivre, Laurence, Goizet, Cyril, Haye, Damien, Heron, Bénédicte, Kemlin, Isabelle, Lacombe, Didier, Milh, Mathieu, Moutard, Marie-Laure, Riant, Florence, Robin, Stéphanie, Roubertie, Agathe, Sarda, Pierre, Toutain, Annick, Villard, Laurent, Ville, Dorothée, Billette de Villemeur, Thierry, Rodriguez, Diana, Burglen, Lydie
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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New insights into CC2D2A-related Joubert syndrome
Harion, Madeleine, Qebibo, Leila, Riquet, Audrey, Rougeot, Christelle, Afenjar, Alexandra, Garel, Catherine, Louha, Malek, Lacaze, Emmanuelle, Audic-Gérard, Frédérique, Barth, Magali, Berquin, Patrick, Bonneau, Dominique, Bourdain, Frédéric, Busa, Tiffany, Colin, Estelle, Cuisset, Jean-Marie, Des Portes, Vincent, Dorison, Nathalie, Francannet, Christine, Héron, Bénédicte, Laroche, Cécile, Lebrun, Marine, Métreau, Julia, Odent, Sylvie, Pasquier, Laurent, Trujillo, Yaumara Perdomo, Perrin, Laurine, Pinson, Lucile, Rivier, François, Sigaudy, Sabine, Thauvin-Robinet, Christel, Louvier, Ulrike Walther, Labayle, Olivier, Rodriguez, Diana, Valence, Stéphanie, Burglen, Lydie
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W., Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair T., Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C., Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A., Dobyns, William B., Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony
Published in Neuron (Cambridge, Mass.) (19.12.2018)
Published in Neuron (Cambridge, Mass.) (19.12.2018)
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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up
Jaillard, Alienor, Valence, Stéphanie, Vande Perre, Saskia, Dhombres, Ferdinand, Héron, Delphine, Billette de Villemeur, Thierry, Keren, Boris, Afenjar, Alexandra, Qebibo, Leila, Harion, Madeleine, Quenum‐Miraillet, Geneviève, Rodriguez, Diana, Jouannic, Jean‐Marie, Burglen, Lydie, Garel, Catherine
Published in Prenatal diagnosis (01.01.2024)
Published in Prenatal diagnosis (01.01.2024)
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BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal K, Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza Maria, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha S, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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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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Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases
Blondiaux, Eléonore, Valence, Stéphanie, Friszer, Stéphanie, Rodriguez, Diana, Burglen, Lydie, Ducou le Pointe, Hubert, Blouet, Marie, Garel, Catherine
Published in Fetal diagnosis and therapy (01.03.2019)
Published in Fetal diagnosis and therapy (01.03.2019)
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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin-Robinet, Christel, Verny, Christophe, Milea, Dan, Lesca, Gaëtan, Koenig, Michel, Rodriguez, Diana, Houcinat, Nada, Van-Gils, Julien, Durand, Christelle M., Guichet, Agnès, Barth, Magalie, Bonneau, Dominique, Convers, Philippe, Maillart, Elisabeth, Guyant-Marechal, Lucie, Hannequin, Didier, Fromager, Guillaume, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Valence, Stéphanie, Charles, Perrine, Berquin, Patrick, Rooryck, Caroline, Bouron, Julie, Brice, Alexis, Lacombe, Didier, Rossignol, Rodrigue, Stevanin, Giovanni, Benard, Giovanni, Burglen, Lydie, Durr, Alexandra, Goizet, Cyril, Coupry, Isabelle
Published in Annals of neurology (01.12.2015)
Published in Annals of neurology (01.12.2015)
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