Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review
Cuvelier, Vivien, Trost, Detlef, Stichelbout, Morgane, Michot, Caroline, Cormier-Daire, Valérie, Boutry, Nathalie, Machet, Elise, Vincent-Delorme, Catherine
Published in Prenatal diagnosis (01.08.2024)
Published in Prenatal diagnosis (01.08.2024)
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COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Coste, Thibault, Vincent‐Delorme, Catherine, Stichelbout, Morgane, Devisme, Louise, Gelot, Antoinette, Deryabin, Igor, Pelluard, Fanny, Aloui, Chaker, Leutenegger, Anne‐Louise, Jouannic, Jean‐Marie, Héron, Delphine, Gould, Douglas B, Tournier‐Lasserve, Elisabeth
Published in Prenatal diagnosis (01.05.2022)
Published in Prenatal diagnosis (01.05.2022)
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Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
Pennamen, Perrine, Tingaud‐Sequeira, Angèle, Michaud, Vincent, Morice‐Picard, Fanny, Plaisant, Claudio, Vincent‐Delorme, Catherine, Giuliano, Fabienne, Azarnoush, Saba, Capri, Yline, Marçon, Carolina, Lacombe, Didier, Lasseaux, Eulalie, Arveiler, Benoît
Published in Pigment cell and melanoma research (01.01.2021)
Published in Pigment cell and melanoma research (01.01.2021)
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot‐Bastaraud, Sandra, Portnoï, Marie‐France, Nouguès, Marie‐Christine, Moutard, Marie‐Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent‐Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques, Pebrel‐Richard, Céline, Colson, Cindy, Gerard, Marion, Missirian, Chantal, Sigaudy, Sabine, Busa, Tiffany, Doco‐Fenzy, Martine, Malan, Valérie, Rio, Marlène, Doray, Bérénice, Sanlaville, Damien, Siffroi, Jean‐Pierre, Héron, Delphine, Heide, Solveig
Published in Clinical genetics (01.03.2022)
Published in Clinical genetics (01.03.2022)
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Expanding the KIF4A‐associated phenotype
Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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New intragenic rearrangements in non‐Finnish mulibrey nanism
Jobic, Florence, Morin, Gilles, Vincent‐Delorme, Catherine, Cadet, Estelle, Cabry, Rosalie, Mathieu‐Dramard, Michèle, Copin, Henri, Rochette, Jacques, Jedraszak, Guillaume
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
Lehalle, Daphné, Altunoglu, Umut, Bruel, Ange‐Line, Assoum, Mirna, Duffourd, Yannis, Masurel, Alice, Baujat, Geneviève, Bessieres, Bettina, Captier, Guillaume, Edery, Patrick, Elçioğlu, Nursel H., Geneviève, David, Goldenberg, Alice, Héron, Delphine, Grotto, Sarah, Marlin, Sandrine, Putoux, Audrey, Rossi, Massimiliano, Saugier‐Veber, Pascale, Triau, Stéphane, Cabrol, Christelle, Vézain, Myriam, Vincent‐Delorme, Catherine, Thauvin‐Robinet, Christel, Thevenon, Julien, Vabres, Pierre, Callier, Patrick, Kayserili, Hulya, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children
Marie, Amélie, Clabaut, Laëtitia, Corbeil, Marjolaine, Vanlerberghe, Clémence, Vincent-Delorme, Catherine, Le Driant, Barbara
Published in Frontiers in psychology (30.08.2023)
Published in Frontiers in psychology (30.08.2023)
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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., Ragge, Nicola K.
Published in Nature communications (26.10.2024)
Published in Nature communications (26.10.2024)
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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
Chesneau, Bertrand, Ivashchenko, Véronique, Habib, Christophe, Gaston, Véronique, Escudié, Fréderic, Morel, Godelieve, Capri, Yline, Vincent-Delorme, Catherine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
Liu, Hui, Giguet‐Valard, Anna‐Gaëlle, Simonet, Thomas, Szenker‐Ravi, Emmanuelle, Lambert, Laetitia, Vincent‐Delorme, Catherine, Scheidecker, Sophie, Fradin, Mélanie, Morice‐Picard, Fanny, Naudion, Sophie, Ciorna‐Monferrato, Viorica, Colin, Estelle, Fellmann, Florence, Blesson, Sophie, Jouk, Pierre‐Simon, Francannet, Christine, Petit, Florence, Moutton, Sébastien, Lehalle, Daphné, Chassaing, Nicolas, El Zein, Loubna, Bazin, Anne, Bénéteau, Claire, Attié‐Bitach, Tania, Hanu, Sylvie M., Brechard, Marie‐Pierre, Chiesa, Jean, Pasquier, Laurent, Rooryck‐Thambo, Caroline, Van Maldergem, Lionel, Cabrol, Christelle, El Chehadeh, Salima, Vasiljevic, Alexandre, Isidor, Bertrand, Abel, Carine, Thevenon, Julien, Di Filippo, Sylvie, Vigouroux‐Castera, Adeline, Attia, Jocelyne, Quelin, Chloé, Odent, Sylvie, Piard, Juliette, Giuliano, Fabienne, Putoux, Audrey, Khau Van Kien, Philippe, Yardin, Catherine, Touraine, Renaud, Reversade, Bruno, Bouvagnet, Patrice
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Guerrot, Anne-Marie, Genevieve, David, Lecoquierre, Francois, Jacquette, Aurélia, Khau Van Kien, Philippe, Leheup, Bruno, Marlin, Sandrine, Verloes, Alain, Michaud, Vincent, Nadeau, Gwenael, Mignot, Cyril, Parent, Philippe, Rossi, Massimiliano, Toutain, Annick, Schaefer, Elise, Thauvin-Robinet, Christel, Van Maldergem, Lionel, Thevenon, Julien, Satre, Véronique, Perrin, Laurence, Vincent-Delorme, Catherine, Sorlin, Arthur, Missirian, Chantal, Villard, Laurent, Mancini, Julien, Saugier-Veber, Pascale, Philip, Nicole
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Chesneau, Bertrand, Aubert‐Mucca, Marion, Fremont, Félix, Pechmeja, Jacmine, Soler, Vincent, Isidor, Bertrand, Nizon, Mathilde, Dollfus, Hélène, Kaplan, Josseline, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Busa, Tiffany, Lacombe, Didier, Naudion, Sophie, Amiel, Jeanne, Rio, Marlène, Attie‐Bitach, Tania, Lesage, Cécile, Thouvenin, Dominique, Odent, Sylvie, Morel, Godelieve, Vincent‐Delorme, Catherine, Boute, Odile, Vanlerberghe, Clémence, Dieux, Anne, Boussion, Simon, Faivre, Laurence, Pinson, Lucile, Laffargue, Fanny, Le Guyader, Gwenaël, Le Meur, Guylène, Prieur, Fabienne, Lambert, Victor, Laudier, Beatrice, Cottereau, Edouard, Ayuso, Carmen, Corton‐Pérez, Marta, Bouneau, Laurence, Le Caignec, Cédric, Gaston, Véronique, Jeanton‐Scaramouche, Claire, Dupin‐Deguine, Delphine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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New insights into genotype-phenotype correlation for GLI3 mutations
Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, Van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent-Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie, Vekemans, Michel, Attie-Bitach, Tania
Published in European journal of human genetics : EJHG (01.01.2015)
Published in European journal of human genetics : EJHG (01.01.2015)
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Chassaing, Nicolas, Davis, Erica E, McKnight, Kelly L, Niederriter, Adrienne R, Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C, Faguer, Stanislas, Calvas, Patrick
Published in Genome research (01.04.2016)
Published in Genome research (01.04.2016)
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
Jedraszak, Guillaume, Jobic, Florence, Receveur, Aline, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte, Tiffany, Busa, Missirian, Chantal, Willems, Marjolaine, Odent, Sylvie, Lucas, Josette, Dubourg, Christele, Schaefer, Elise, Scheidecker, Sophie, Lespinasse, James, Goldenberg, Alice, Guerrot, Anne‐Marie, Joly‐Helas, Géraldine, Chambon, Pascal, Le Caignec, Cédric, David, Albert, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Amblard, Florence, Harbuz, Radu, Sanlaville, Damien, Till, Marianne, Vincent‐Delorme, Catherine, Colson, Cindy, Andrieux, Joris, Naudion, Sophie, Toutain, Jérome, Rooryck, Caroline, Fréminville, Bénédicte, Prieur, Fabienne, Daire, Valérie Cormier, Amram, Daniel, Kleinfinger, Pascale, Schulze, Matthias B., Raabe‐Meyer, Gisela, Courage, Carolina, Lemke, Johannes, Stefanou, Eunice G., Loretta, Thomaidis, Emmanouil, Manolakos, Tzeli, Sophia Kitsiou, Sodowska, Henryka, Anderson, Jasen, Nandini, Adayapalam, Copin, Henri, Garçon, Loïc, Liehr, Thomas, Morin, Gilles
Published in American journal of medical genetics. Part A (01.04.2024)
Published in American journal of medical genetics. Part A (01.04.2024)
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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Garde, Aurore, Cornaton, Jenny, Sorlin, Arthur, Moutton, Sébastien, Nicolas, Claire, Juif, Christine, Geneviève, David, Perrin, Laurence, Khau‐Van‐Kien, Philippe, Smol, Thomas, Vincent‐Delorme, Catherine, Isidor, Bertrand, Cogné, Benjamin, Afenjar, Alexandra, Keren, Boris, Coubes, Christine, Prieur, Fabienne, Toutain, Annick, Trousselet, Yann, Bourgouin, Solène, Gonin‐Olympiade, Coralie, Giraudat, Kim, Piton, Amélie, Gérard, Bénédicte, Odent, Sylvie, Tessier, Fanny, Lemasson, Lola, Heide, Solveig, Gelineau, Anne‐Claire, Sarret, Catherine, Miret, Anne, Schaefer, Elise, Piard, Juliette, Mathevet, Rémi, Boucon, Marion, Bruel, Ange‐Line, Mau‐Them, Frederic Tran, Chevarin, Martin, Vitobello, Antonio, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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