The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity von Maillard, A M, Ruef, A, Pizzagalli, F, Migliavacca, E, Hippolyte, L, Adaszewski, S, Dukart, J, Ferrari, C, Conus, P, Männik, K, Zazhytska, M, Siffredi, V, Maeder, P, Kutalik, Z, Kherif, F, Hadjikhani, N, Beckmann, J S, Reymond, A, Draganski, B, Jacquemont, S

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs von Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome von Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations von Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy von Reinthaler, Eva M, Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S, Dahl, Hans-Henrik M, Regan, Brigid M, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M, Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J, Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R, Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E, Berkovic, Samuel F, Beckmann, Jacques S, Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A

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Diagnostic investigations for an unexplained developmental disability von Verloes, A, Héron, D, Billette de Villemeur, T, Afenjar, A, Baumann, C, Bahi-Buisson, N, Charles, P, Faudet, A, Jacquette, A, Mignot, C, Moutard, M-L, Passemard, S, Rio, M, Robel, L, Rougeot, C, Ville, D, Burglen, L, des Portes, V

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Incomplete sulphomucin-secreting intestinal metaplasia for gastric cancer. Preliminary data from a prospective study from three centres von Filipe, M I, Potet, F, Bogomoletz, W V, Dawson, P A, Fabiani, B, Chauveinc, P, Fenzy, A, Gazzard, B, Goldfain, D, Zeegen, R

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Anorectal ulceration due to abuse of dextropropoxyphene and paracetamol suppositories von Fenzy, A, Bogomoletz, W V

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Lymphoid follicular proctitis. A condition different from ulcerative proctitis? von Fléjou, J F, Potet, F, Bogomoletz, W V, Rigaud, C, Fenzy, A, Le Quintrec, Y, Goldfain, D, Brousse, N

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Lymphoid follicular proctitic: a condition different from ulcerative proctitis? von FLEJOU, J. F, POTET, F, BOGOMOLETZ, W. V, RIGAUD, C, FENZY, A, LE QUINTREC, Y, GOLDFAIN, D, BROUSSE, N

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Incomplet sulphomucin-secreting intestinal metaplasia for gastric cancer: preliminary data from a prospective study from three centres von FILIPE, M. I, POTET, F, BOGOMOLETZ, W. V, DAWSON, P. A, FABIANI, B, CHAUVEINC, P, FENZY, A, GAZZARD, B, GOLDFAIN, D, ZEEGEN, R

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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis von Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

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Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases von Baer, S., Afenjar, A., Smol, T., Piton, A., Gérard, B., Alembik, Y., Bienvenu, T., Boursier, G., Boute, O., Colson, C., Cordier, M.‐P., Cormier‐Daire, V., Delobel, B., Doco‐Fenzy, M., Duban‐Bedu, B., Fradin, M., Geneviève, D., Goldenberg, A., Grelet, M., Haye, D., Heron, D., Isidor, B., Keren, B., Lacombe, D., Lèbre, A.‐S., Lesca, G., Masurel, A., Mathieu‐Dramard, M., Nava, C., Pasquier, L., Petit, A., Philip, N., Piard, J., Rondeau, S., Saugier‐Veber, P., Sukno, S., Thevenon, J., Van‐Gils, J., Vincent‐Delorme, C., Willems, M., Schaefer, E., Morin, G.

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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review von Guterman, Sarah, Beneteau, Claire, Redon, Sylvia, Dupont, Céline, Missirian, Chantal, Jaeger, Pauline, Herve, Berenice, Jacquin, Clémence, Douet‐Guilbert, Nathalie, Till, Marianne, Tabet, Anne‐Claude, Moradkhani, Kamran, Malan, Valérie, Doco‐Fenzy, Martine, Vialard, François

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Clinical Genetics of Prolidase Deficiency: An Updated Review von Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients von Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine

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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins von Salian, Smrithi, Scala, Marcello, Nguyen, Thi Tuyet Mai, Severino, Mariasavina, Accogli, Andrea, Amadori, Elisabetta, Torella, Annalaura, Pinelli, Michele, Hudson, Beth, Boothe, Megan, Hurst, Anna, Ben‐Omran, Tawfeg, Larsen, Martin J., Fagerberg, Christina R., Sperling, Lene, Miceikaite, Ieva, Herissant, Lucas, Doco‐Fenzy, Martine, Jennesson, Mélanie, Nigro, Vincenzo, Striano, Pasquale, Minetti, Carlo, Sachdev, Rani K., Palmer, Emma Elizabeth, Capra, Valeria, Campeau, Philippe M.

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder von Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep

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3q29 duplications: A cohort of 46 patients and a literature review von Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum von 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

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