Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency von BOLLEE, Guillaume, DOLLINGER, Cécile, BOUTAUD, Lucile, GUILLEMOT, Delphine, BENSMAN, Albert, HARAMBAT, Jérôme, DETEIX, Patrice, DAUDON, Michel, KNEBELMANN, Bertrand, CEBALLOS-PICOT, Irène

Volltext

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central... von Tessier, Aude, Roux, Nathalie, Boutaud, Lucile, Lunel, Elodie, Hakkakian, Leila, Parisot, Mélanie, Garfa-Traoré, Meriem, Ichkou, Amale, Elkhartoufi, Nadia, Bole, Christine, Nitschke, Patrick, Amiel, Jeanne, Martinovic, Jelena, Encha-Razavi, Férechté, Attié-Bitach, Tania, Thomas, Sophie

Volltext

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs von Cogan, Guillaume, Bourgon, Nicolas, Borghese, Roxana, Julien, Emmanuel, Jaquette, Aurélia, Stos, Bertrand, Achaiaa, Amale, Chuon, Sophie, Nitschke, Patrick, Fourrage, Cécile, Stirnemann, Julien, Boutaud, Lucile, Attie-Bitach, Tania

Volltext

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes von Hennocq, Quentin, Bongibault, Thomas, Marlin, Sandrine, Amiel, Jeanne, Attie-Bitach, Tania, Baujat, Geneviève, Boutaud, Lucile, Carpentier, Georges, Corre, Pierre, Denoyelle, Françoise, Djate Delbrah, François, Douillet, Maxime, Galliani, Eva, Kamolvisit, Wuttichart, Lyonnet, Stanislas, Milea, Dan, Pingault, Véronique, Porntaveetus, Thantrira, Touzet-Roumazeille, Sandrine, Willems, Marjolaine, Picard, Arnaud, Rio, Marlène, Garcelon, Nicolas, Khonsari, Roman H.

Volltext

Cilia in hereditary cerebral anomalies von Thomas, Sophie, Boutaud, Lucile, Reilly, Madeline Louise, Benmerah, Alexandre

Volltext

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation von Gardner, Jennifer F, Cushion, Thomas D, Niotakis, Georgios, Olson, Heather E, Grant, P Ellen, Scott, Richard H, Stoodley, Neil, Cohen, Julie S, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M, Mugalaasi, Hood, Mullins, Jonathan G L, Pilz, Daniela T, Fry, Andrew E

Volltext

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct von Nicolle, Romain, Boutaud, Lucile, Loeuillet, Laurence, Talhi, Naima, Grotto, Sarah, Bourgon, Nicolas, Feresin, Agnese, Coussement, Aurélie, Barrois, Mathilde, Beaujard, Marie-Paule, Rambaud, Thomas, Razavi, Férechté, Attié-Bitach, Tania

Volltext

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect von Boutaud, Lucile, Ruzzenente, Benedetta, Tessier, Aude, Anselem, Olivia, Pannier, Emmanuelle, Grotto, Sarah, Talhi, Naïma, Amram, Daniel, Willems, Marjolaine, Wells, Constance, Blanchet, Patricia, Musizzano, Yuri, Jauny, Clémence, Nitschke, Patrick, Bole-Feysot, Christine, Bessières, Bettina, Salhi, Houria, Achaiaa, Amale, Metodiev, Metodi D, Razavi, Ferechte, Rötig, Agnès, Loeuilllet, Laurence, Attié-Bitach, Tania

Volltext

Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes von Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie

Volltext

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU von Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril

Volltext

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability von Mignot, Cyril, Moutard, Marie-Laure, Rastetter, Agnès, Boutaud, Lucile, Heide, Solveig, Billette, Thierry, Doummar, Diane, Garel, Catherine, Afenjar, Alexandra, Jacquette, Aurélia, Lacombe, Didier, Verloes, Alain, Bole-Feysot, Christine, Nitschké, Patrick, Masson, Cécile, Faudet, Anne, Lesne, Fabien, Bienvenu, Thierry, Alby, Caroline, Attié-Bitach, Tania, Depienne, Christel, Nava, Caroline, Héron, Delphine

Volltext

Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor von Darcha, Claude, Laffargue, Fanny, Boutaud, Lucile, Gallot, Denis, Dauphin, Claire, Garcier, Jean Marc, Achaiaa, Amale, Nitschke, Patrick, Fourrage, Cécile, Goumy, Carole, Attie‐Bitach, Tania

Volltext

The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome von Ghesh, Leïla, Musquer, Marie Denis, Devisme, Louise, Stichelbout, Morgane, Boutaud, Lucile, Elkhartoufi, Nadia, Vaast, Pascal, Boute, Odile, Riteau, Anne‐Sophie, Le Vaillant, Claudine, Winer, Norbert, Joubert, Madeleine, Bezieau, Stéphane, Thomas, Sophie, Attie‐Bitach, Tania, Beneteau, Claire

Volltext

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis von Quélin, Chloé, Loget, Philippe, Boutaud, Lucile, Elkhartoufi, Nadia, Milon, Joelle, Odent, Sylvie, Fradin, Mélanie, Demurger, Florence, Pasquier, Laurent, Thomas, Sophie, Attié‐Bitach, Tania

Volltext

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development von Boutaud, Lucile, Michael, Marie, Banal, Céline, Calderon, Damelys, Farcy, Sarah, Pernelle, Julie, Goudin, Nicolas, Maillard, Camille, Dimartino, Clémantine, Deleschaux, Cécile, Dupichaud, Sébastien, Lebreton, Corinne, Saunier, Sophie, Attié-Bitach, Tania, Bahi-Buisson, Nadia, Lefort, Nathalie, Thomas, Sophie

Volltext

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene von Billon, Clarisse, Molin, Arnaud, Poirsier, Céline, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, Valérie, Tantau, Julia, Fleury, Clémence, Liard, Agnès, Diguet, Alain, Fritih, Radia, Verspyck, Eric, Rendu, John, Boutaud, Lucile, Tessier, Aude, Thomas, Sophie, Razavi, Ferechté, Achaiaa, Amale, Elkhartoufi, Nadia, Hakkakian, Leila, Magnin, Eglantine, Bôle‐Feysot, Christine, Masson, Cécile, Ville, Yves, Roth, Philippe, Prieur, Fabienne, Bessieres, Bettina, Bonniere, Maryse, Attie‐Bitach, Tania

Volltext

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome von Bonnard, Carine, Shboul, Mohammad, Tonekaboni, Seyed Hassan, Ng, Alvin Yu Jin, Tohari, Sumanty, Ghosh, Kakaly, Lai, Angeline, Lim, Jiin Ying, Tan, Ene Choo, Devisme, Louise, Stichelbout, Morgane, Alkindi, Adila, Banu, Nazreen, Yüksel, Zafer, Ghoumid, Jamal, Elkhartoufi, Nadia, Boutaud, Lucile, Micalizzi, Alessia, Brett, Maggie Siewyan, Venkatesh, Byrappa, Valente, Enza Maria, Attié-Bitach, Tania, Reversade, Bruno, Kariminejad, Ariana

Volltext

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation von Alby, Caroline, Malan, Valérie, Boutaud, Lucile, Marangoni, Maria Angela, Bessières, Bettina, Bonniere, Maryse, Ichkou, Amale, Elkhartoufi, Nadia, Bahi-Buisson, Nadia, Sonigo, Pascale, Millischer, Anne-Elodie, Thomas, Sophie, Ville, Yves, Vekemans, Michel, Encha-Razavi, Férechté, Attié-Bitach, Tania

Volltext

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature von Le Van Quyen, Pauline, Calmels, Nadège, Bonnière, Maryse, Chartier, Suzanne, Razavi, Féréchté, Chelly, Jamel, El Chehadeh, Salima, Baer, Sarah, Boutaud, Lucile, Bacrot, Séverine, Obringer, Cathy, Favre, Romain, Attié‐Bitach, Tania, Laugel, Vincent, Antal, Maria C.

Volltext

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development von Boutaud, Lucile, Michael, Marie, Banal, Céline, Calderon, Damelys, Farcy, Sarah, Pernelle, Julie, Goudin, Nicolas, Maillard, Camille, Dimartino, Clémantine, Deleschaux, Cécile, Dupichaud, Sébastien, Lebreton, Corinne, Saunier, Sophie, Attié-Bitach, Tania, Bahi-Buisson, Nadia, Lefort, Nathalie, Thomas, Sophie

Volltext