Heterogeneity in defining fetal corpus callosal pathology: systematic review von Mahallati, H., Sotiriadis, A., Celestin, C., Millischer, A. E., Sonigo, P., Grevent, D., O'Gorman, N., Bahi‐Buisson, N., Attié‐Bitach, T., Ville, Y., Salomon, L. J.

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development von Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément-Ziza, M, Delezoide, A-L, Aubry, M-C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon-Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Attié-Bitach, T

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment von Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T

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Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment von Vinit, N., Bessières, B., Spaggiari, E., Heidet, L., Gubler, M.‐C., Dreux, S., Attie‐Bitach, T., Blanc, T., Ville, Y., Stirnemann, Julien J., Salomon, Laurent J., Loeuillet, Laurence, Bonnière, Maryse, Salhi, Houria, Roux, Nathalie, Petrilli, Giulia, Guimiot, Fabien, Khung‐Savatovsky, Suonavy, Rosenblatt, Jonathan, Quibel, Thibaud, Leroy, Brigitte, Tsatsaris, Vassilis, Anselem, Olivia, Grange, Gilles, Levaillant, Jean‐Marc, Talhi, Naima

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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly von Kim, Artem, Savary, Clara, Dubourg, Christèle, Carré, Wilfrid, Mouden, Charlotte, Hamdi-Rozé, Houda, Guyodo, Hélène, Douce, Jerome Le, Pasquier, Laurent, Flori, Elisabeth, Gonzales, Marie, Bénéteau, Claire, Boute, Odile, Attié-Bitach, Tania, Roume, Joelle, Goujon, Louise, Akloul, Linda, Odent, Sylvie, Watrin, Erwan, Dupé, Valérie, de Tayrac, Marie, David, Véronique

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Re-focusing on Agnathia-Otocephaly complex von Dubucs, C., Chassaing, N., Sergi, C., Aubert-Mucca, M., Attié-Bitach, T., Lacombe, D., Thauvin-Robinet, C., Arpin, S., Perez, M. J., Cabrol, C., Chen, C. P., Aziza, J., Colin, E., Martinovic, J., Calvas, P., Plaisancié, Julie

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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies von Petzold, Friederike, Billot, Katy, Filhol, Emilie, Martin, Yoann, Morinière, Vincent, Krug, Pauline, Tory, Kalman, Servais, Aude, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Saunier, Sophie, Attié-Bitach, Tania, Mohsin, Nabil, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Gagnadoux, Marie-France, Ranchin, Bruno, Knebelmann, Bertrand, Burtey, Stéphane, Morin, Denis, Dollfus, Hélène, Hamel, Christian, Bieth, Eric, Gie, Sophie, Bessenay, Lucie, Palcoux, Jean Bernard, Dubot, Philippe, Iftene, Daouya, Lahoche, Anine, Leclerc, Anne-Laure, Milford, David, Chauveau, Dominique, Allard, Lisa, Adra, Anne-Laure, Baatard, Remy, Bacchetta, Justine, Benmati, Faïza, Boffa, Jean Jacques, Bourdat-Michel, Guylhène, Elalaoui, Siham Chafai, Graber, Denis, Diouf, Boucar, Fryer, Alan, Albano, Laetitia, Chaussenot, Annabelle, Bottani, Armand, Hummel, Aurélie, Katz, Avi, Mariat, Christiophe, Champion, Gérard, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Lacombe, Didier, Charlin, Emmanuelle, Plasse, Florent, Lebas, Fanny, Dumont, Geneviève, Guigonis, Vincent, Coudert, Krier, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Nizon, Mathilde, Foulard, Michel, Brun, Nathalie, Noble, Claire Pouteil, Bernard, Raphaelle, Cahen, Rémi, Sacquepee, Mathieu, Haq, Shuman, Lanoiselée, Stéphanie, Subra, Jean-François, Cloarec, Sylvie, Lamy, Thomas, Garraud, Valérie Drouin, Finielz, Paul, Foliguet, Bernard, Francois-Pradier, Hélène, Gerard, Marion, Dubrasquet, Astrid Godron, Knoers, Nine, de Parscau, Loïc, Rio, Marlène, Merville, Pierre, Moreau, Karine, Mourad, Georges, Niel, Olivier, Malvezzi, Paolo, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Pichault, Valérie, Boudailliez, Bernard, Berland, Yves, Rossi, Annick, Tsimaratos, Michel, Willems, Marjolaine, Youssef, Michel

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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability von Delahaye, A, Sznajer, Y, Lyonnet, S, Elmaleh-Bergès, M, Delpierre, I, Audollent, S, Wiener-Vacher, S, Mansbach, A-L, Amiel, J, Baumann, C, Bremond-Gignac, D, Attié-Bitach, T, Verloes, A, Sanlaville, D

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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia von Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.

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P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles von Ferreboeuf, M, Mariot, V, Bessières, B, Vasiljevic, A, Attié-Bitach, T, Collardeau, S, Roche, S, Magdinier, F, Robin-Ducellier, J, Rameau, P, Whalen, S, Sacconi, S, Mouly, V, Butler-Browne, G, Dumonceaux, J

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EP21.28: Prenatal diagnosis of Primrose syndrome von Abdallah, W., Quibel, T., Brisset, S., Dard, R., Spaggiari, E., Alby‐Averseng, C., Attie‐Bitach, T., Ville, Y., Bault, J.

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities von Avila, M., Gigot, N., Aral, B., Callier, P., Gautier, E., Thevenon, J., Pasquier, L., Lopez, E., Gueneau, L., Duplomb, L., Goldenberg, A., Baumann, C., Cormier, V., Marlin, S., Masurel-Paulet, A., Huet, F., Attié-Bitach, T., Faivre, L., Thauvin-Robinet, C.

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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease von de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.

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A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects von Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S

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Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy von Perrault, I, Halbritter, J, Porath, J, Gerard, X, Braun, D, Gee, H, Fathy, H, Saunier, S, Cormier-Daire, V, Thomas, S, Attié-Bitach, T, Boddaert, N, Taschner, M, Schueler, M, Lorentzen, E, Lifton, R, Otto, E, Bastin, P, Kaplan, J, Hildebrandt, F, Rozet, JM

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EP23.06: Prenatal diagnosis of Fontaine progeroid syndrome with a de novo mutation in SLC25A24 von Pannier, E., Roux, N., Boutaud, L., Grotto, S., Molac, C., El Khattabi, L., Ichkou, A., Fourrage, C., Razavi, F., Menzella, D., Grangé, G., Thébault, F., Bernabé‐Dupont, C., Lohmann, L., Goffinet, F., Tsatsaris, V., Attie‐Bitach, T.

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High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts von Park, J W, Cai, J, McIntosh, I, Jabs, E W, Fallin, M D, Ingersoll, R, Hetmanski, J B, Vekemans, M, Attie-Bitach, T, Lovett, M, Scott, A F, Beaty, T H

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PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism von Amiel, J, Audollent, S, Joly, D, Dureau, P, Salomon, R, Tellier, A L, Augé, J, Bouissou, F, Antignac, C, Gubler, M C, Eccles, M R, Munnich, A, Vekemans, M, Lyonnet, S, Attié-Bitach, T

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Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid von Essaoui, M, Nizon, M, Beaujard, M.P, Carrier, A, Tantau, J, de Blois, M.C, Fontaine, S, Michot, C, Amiel, J, Bernard, J.P, Attié-Bitach, T, Vekemans, M, Turleau, C, Ville, Y, Malan, V

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Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome von Pinson, L, Augé, J, Audollent, S, Mattéi, G, Etchevers, H, Gigarel, N, Razavi, F, Lacombe, D, Odent, S, Le Merrer, M, Amiel, J, Munnich, A, Meroni, G, Lyonnet, S, Vekemans, M, Attié-Bitach, T

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