P105 – 2378: Microcephaly, pontocerebellar hypoplasia and epilepsy in patients with CASK mutations von Máté, A, Szakszon, K, Nagy, A.J, Zombor, M, Rudas, G, Zimmermann, A, van Ruissen, F, Baas, F, Sztriha, L

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Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene von Mercimek-Mahmutoglu, Saadet, Ndika, Joseph, Kanhai, Warsha, de Villemeur, Thierry Billette, Cheillan, David, Christensen, Ernst, Dorison, Nathalie, Hannig, Vickie, Hendriks, Yvonne, Hofstede, Floris C., Lion-Francois, Laurence, Lund, Allan M., Mundy, Helen, Pitelet, Gaele, Raspall-Chaure, Miquel, Scott-Schwoerer, Jessica A., Szakszon, Katalin, Valayannopoulos, Vassili, Williams, Monique, Salomons, Gajja S.

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The Satiety Factor Apolipoprotein A-IV Modulates Intestinal Epithelial Permeability through its Interaction with α-Catenin: Implications for Inflammatory Bowel Diseases von Orsó, E., Moehle, C., Boettcher, A., Szakszon, K., Werner, T., Langmann, T., Liebisch, G., Buechler, C., Ritter, M., Kronenberg, F., Dieplinger, H., Bornstein, S. R., Stremmel, W., Schmitz, G.

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network von Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio

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Successful surgical intervention in a case of spontaneous chylothorax in an infant unresponsive to conservative therapy von Szakszon, K., Veres, Z. L., Boros, M., Kiss, S. Sz, Nagy, B., Bálega, E., Papp, á., Németh, E., Pataki, I., Szabó, T.

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Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome von Szakszon, Katalin, Felszeghy, Enikő, Csízy, István, Józsa, Tamás, Káposzta, Rita, Balogh, Erzsébet, Oláh, Éva, Balogh, István, Berényi, Ervin, Knegt, Alida C, Ilyés, István

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W12-P-048 Ezetimib modulates the in vitrodifferentiation and membrane microdomain function in human macrophages von Orsó, E., Bandulik, S., Wolf, Z.S., Szakszon, K., Binder, M., Werner, T., Grandl, M., Koebling, T., Liebisch, G., Kramer, W., Schmitz, G.

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KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer von Simó-Riudalbas, Laia, Pérez-Salvia, Montserrat, Setien, Fernando, Villanueva, Alberto, Moutinho, Catia, Martínez-Cardús, Anna, Moran, Sebastian, Berdasco, Maria, Gomez, Antonio, Vidal, Enrique, Soler, Marta, Heyn, Holger, Vaquero, Alejandro, de la Torre, Carolina, Barceló-Batllori, Silvia, Vidal, August, Roz, Luca, Pastorino, Ugo, Szakszon, Katalin, Borck, Guntram, Moura, Conceição S, Carneiro, Fátima, Zondervan, Ilse, Savola, Suvi, Iwakawa, Reika, Kohno, Takashi, Yokota, Jun, Esteller, Manel

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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients von Yilmaz, Rüstem, Szakszon, Katalin, Altmann, Anna, Altunoglu, Umut, Senturk, Leyli, McGuire, Marianne, Calabrese, Olga, Madan‐Khetarpal, Suneeta, Basel‐Vanagaite, Lina, Borck, Guntram

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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing von Yilmaz, Rüstem, Beleza-Meireles, Ana, Price, Susan, Oliveira, Renata, Kubisch, Christian, Clayton-Smith, Jill, Szakszon, Katalin, Borck, Guntram

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De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome von Szakszon, Katalin, Salpietro, Carmelo, Kakar, Naseebullah, Knegt, Alida C., Oláh, Éva, Dallapiccola, Bruno, Borck, Guntram

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A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary von Sümegi, Andrea, Hendrik, Zoltán, Gáll, Tamás, Felszeghy, Enikő, Szakszon, Katalin, Antal-Szalmás, Péter, Beke, Lívia, Papp, Ágnes, Méhes, Gábor, Balla, József, Balla, György

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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review von Kozma, Kinga, Bembea, Marius, Jurca, Claudia M, Ioana, Mihai, Streață, Ioana, Şoşoi, Simona Ş, Pirvu, Andrei, Petchesi, Codruța D, Szilágyi, Ariana, Sava, Cristian N, Jurca, Alexandru, Ujfalusi, Anikó, Szűcs, Zsuzsanna, Szakszon, Katalin

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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients von Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne

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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome von Parry, David A, Tamayo-Orrego, Lukas, Carroll, Paula, Marsh, Joseph A, Greene, Philip, Murina, Olga, Uggenti, Carolina, Leitch, Andrea, Káposzta, Rita, Merő, Gabriella, Nagy, Andrea, Orlik, Brigitta, Kovács-Pászthy, Balázs, Quigley, Alan J, Riszter, Magdolna, Rankin, Julia, Reijns, Martin A M, Szakszon, Katalin, Jackson, Andrew P

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders von Lessel, Ivana, Baresic, Anja, Chinn, Ivan K, May, Jonathan, Goenka, Anu, Chandler, Kate E, Posey, Jennifer E, Afenjar, Alexandra, Averdunk, Luisa, Bedeschi, Maria Francesca, Besnard, Thomas, Brager, Rae, Brick, Lauren, Brugger, Melanie, Brunet, Theresa, Byrne, Susan, Calle-Martín, Oscar de la, Capra, Valeria, Cardenas, Paul, Chappé, Céline, Chong, Hey J, Cogne, Benjamin, Conboy, Erin, Cope, Heidi, Courtin, Thomas, Deb, Wallid, Dilena, Robertino, Dubourg, Christèle, Elgizouli, Magdeldin, Fernandes, Erica, Fitzgerald, Kristi K, Gangi, Silvana, George-Abraham, Jaya K, Gucsavas-Calikoglu, Muge, Haack, Tobias B, Hadonou, Medard, Hanker, Britta, Hüning, Irina, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma, Jin, Jay J, Jorge, Alexander A L, Josifova, Dragana, Kalinauskiene, Ruta, Kamsteeg, Erik-Jan, Keren, Boris, Kessler, Elena, Kölbel, Heike, Kozenko, Mariya, Kubisch, Christian, Kuechler, Alma, Leal, Suzanne M, Leppälä, Juha, Luu, Sharon M, Lyon, Gholson J, Madan-Khetarpal, Suneeta, Mancardi, Margherita, Marchi, Elaine, Mehta, Lakshmi, Menendez, Beatriz, Morel, Chantal F, Harasink, Sue Moyer, Nevay, Dayna-Lynn, Nigro, Vincenzo, Odent, Sylvie, Oegema, Renske, Pappas, John, Pastore, Matthew T, Perilla-Young, Yezmin, Platzer, Konrad, Powell-Hamilton, Nina, Rabin, Rachel, Rekab, Aisha, Rezende, Raissa C, Robert, Leema, Romano, Ferruccio, Scala, Marcello, Poths, Karin, Schrauwen, Isabelle, Sebastian, Jessica, Short, John, Sidlow, Richard, Sullivan, Jennifer, Szakszon, Katalin, Tan, Queenie K G, Wagner, Matias, Wieczorek, Dagmar, Yuan, Bo, Maeding, Nicole, Strunk, Dirk, Begtrup, Amber, Banka, Siddharth, Lupski, James R, Tolosa, Eva, Lessel, Davor

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New mutations in the ATM gene and clinical data of 25 AT patients von Demuth, Ilja, Dutrannoy, Véronique, Marques, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, Varon, Raymonda

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement von Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B, Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A, Milani, Donatella, Saettini, Francesco, Stevens, Cathy A, Tooke, Lloyd, Van Der Zee, Jill A, Van Genderen, Maria M, Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M, Cueto-González, Anna M, Dominguez-Garrido, Elena, Duijkers, Floor A, Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A, Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M, Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N, Smith, David F, Stevens, Markus F, Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M, Van Wijk, Michiel P, Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C

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Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases von Nagy, Orsolya, Szakszon, Katalin, Biró, Brigitta Orsolya, Mogyorósy, Gábor, Nagy, Dóra, Nagy, Bálint, Balogh, István, Ujfalusi, Anikó

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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome von Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Högel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian

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