Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis von Favier, Maud, Brischoux‐Boucher, Elise, Pyle, Louise C., Mottet, Nicolas, Auber‐Lenoir, Marion, Cattin, Julie, Dahlen, Eric, Cabrol, Christelle, Arbez‐Gindre, Francine, Attié‐Bitach, Tania, Boute, Odile, Devisme, Louise, Trost, Detlef, Boughalem, Aicha, Chitayat, David, Prasov, Lev, Chorin, Odelia, Rein‐Rothschild, Annick, Kassif, Eran, Weissbach, Tal, Hendon, Laura Godfrey, Adam, Margaret P., Quelin, Chloé, Jaillard, Sylvie, Mary, Laura, Aukema, Sietse M., Heijligers, Malou, Die‐Smulders, Christine, Stegmann, Sander, Badalato, Lauren, Ben‐Yehuda, Adi, Beneteau, Claire, Forey, Pierre‐Louis, Kuentz, Paul, Piard, Juliette

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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes von Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome von Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, Blacque, Oliver E.

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Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy von 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

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation von Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie

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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone von Roberson, Elle C, Dowdle, William E, Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R, Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D, Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A, Saunier, Sophie, Otto, Edgar A, Katsanis, Nicholas, Davis, Erica E, Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R, Reiter, Jeremy F

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome von Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie

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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium von Lee, Ji Eun, Silhavy, Jennifer L, Zaki, Maha S, Schroth, Jana, Bielas, Stephanie L, Marsh, Sarah E, Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M, Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V, Glass, Ian A, Cluckey, Andrew, Louie, Carrie M, Lee, Jeong Ho, Raynes, Hilary R, Rapin, Isabelle, Castroviejo, Ignacio P, Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F, Hildebrandt, Friedhelm, Johnson, Colin A, Doherty, Daniel A, Valente, Enza Maria, Gleeson, Joseph G

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome von Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly von Vuillaumier-Barrot, Sandrine, Bouchet-Séraphin, Céline, Chelbi, Malika, Devisme, Louise, Quentin, Samuel, Gazal, Steven, Laquerrière, Annie, Fallet-Bianco, Catherine, Loget, Philippe, Odent, Sylvie, Carles, Dominique, Bazin, Anne, Aziza, Jacqueline, Clemenson, Alix, Guimiot, Fabien, Bonnière, Maryse, Monnot, Sophie, Bole-Feysot, Christine, Bernard, Jean-Pierre, Loeuillet, Laurence, Gonzales, Marie, Socha, Koryna, Grandchamp, Bernard, Attié-Bitach, Tania, Encha-Razavi, Férechté, Seta, Nathalie

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TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A von Boussion, Simon, Escande, Fabienne, Jourdain, Anne‐Sophie, Smol, Thomas, Brunelle, Perrine, Duhamel, Céline, Alembik, Yves, Attié‐Bitach, Tania, Baujat, Geneviève, Bazin, Anne, Bonnière, Maryse, Carassou, Philippe, Carles, Dominique, Devisme, Louise, Goizet, Cyril, Goldenberg, Alice, Grotto, Sarah, Guichet, Agnès, Jouk, Pierre‐Simon, Loeuillet, Laurence, Mechler, Charlotte, Michot, Caroline, Pelluard, Fanny, Putoux, Audrey, Whalen, Sandra, Ghoumid, Jamal, Manouvrier‐Hanu, Sylvie, Petit, Florence

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Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome von Dowdle, William E., Robinson, Jon F., Kneist, Andreas, Sirerol-Piquer, M. Salomé, Frints, Suzanna G.M., Corbit, Kevin C., Zaghloul, Norran A., van Lijnschoten, Gesina, Mulders, Leon, Verver, Dideke E., Zerres, Klaus, Reed, Randall R., Attié-Bitach, Tania, Johnson, Colin A., García-Verdugo, José Manuel, Katsanis, Nicholas, Bergmann, Carsten, Reiter, Jeremy F.

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PAX8, TITF1, and FOXE1 Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis-Associated Malformations von Trueba, Sylvia Sura, Augé, Joëlle, Mattei, Géraldine, Etchevers, Heather, Martinovic, Jélééna, Czernichow, Paul, Vekemans, Michel, Polak, Michel, Attié-Bitach, Tania

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus von JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco

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Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients von Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean-Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Decaestecker, Charles, Gaillard, Dominique, Goldenberg, Alice, Gonzales, Marie, Holder-Espinasse, Muriel, Jacquemont, Marie-Line, Lacombe, Didier, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Morin, Gilles, Pasquier, Laurent, Petit, Florence, Rio, Marlène, Smigiel, Robert, Thauvin-Robinet, Christel, Vasiljevic, Alexandre, Verloes, Alain, Malan, Valérie, Munnich, Arnold, de Pontual, Loïc, Vekemans, Michel, Lyonnet, Stanislas, Attié-Bitach, Tania, Amiel, Jeanne

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation von Mougou-Zerelli, Soumaya, Thomas, Sophie, Szenker, Emmanuelle, Audollent, Sophie, Elkhartoufi, Nadia, Babarit, Candice, Romano, Stéphane, Salomon, Rémi, Amiel, Jeanne, Esculpavit, Chantal, Gonzales, Marie, Escudier, Estelle, Leheup, Bruno, Loget, Philippe, Odent, Sylvie, Roume, Joëlle, Gérard, Marion, Delezoide, Anne-Lise, Khung, Suonavy, Patrier, Sophie, Cordier, Marie-Pierre, Bouvier, Raymonde, Martinovic, Jéléna, Gubler, Marie-Claire, Boddaert, Nathalie, Munnich, Arnold, Encha-Razavi, Férechté, Valente, Enza Maria, Saad, Ali, Saunier, Sophie, Vekemans, Michel, Attié-Bitach, Tania

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TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human von Delalande, Jean Marie, Nagy, Nandor, McCann, Conor J, Natarajan, Dipa, Cooper, Julie E, Carreno, Gabriela, Dora, David, Campbell, Alison, Laurent, Nicole, Kemos, Polychronis, Thomas, Sophie, Alby, Caroline, Attié-Bitach, Tania, Lyonnet, Stanislas, Logan, Malcolm P, Goldstein, Allan M, Davey, Megan G, Hofstra, Robert M W, Thapar, Nikhil, Burns, Alan J

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Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation von Molinari, Florence, Rio, Marlène, Meskenaite, Virginia, Encha-Razavi, Férechté, Augé, Joelle, Bacq, Delphine, Briault, Sylvain, Vekemans, Michel, Munnich, Arnold, Attié-Bitach, Tania, Sonderegger, Peter, Colleaux, Laurence

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Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype von Bourgon, Nicolas, Chen, Ruiqian, Grangé, Gilles, Grotto, Sarah, Molac, Clémence, Loeuillet, Laurence, Attié‐Bitach, Tania

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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) von Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, Vincent, Marie

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