Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands von Wurfbain, Lisca Florence, Cox, Inge Lucia, van Dooren, Maria Francisca, Lachmeijer, Augusta Maria Antonia, Verhoeven, Virginie Johanna Maria, van Hagen, Johanna Maria, Heijligers, Malou, Klein Wassink-Ruiter, Jolien Sietske, Koene, Saskia, Maas, Saskia Mariska, Veenstra-Knol, Hermine Elisabeth, Ploos van Amstel, Johannes Kristian, Massink, Maarten Pieter Gerrit, Mink van der Molen, Aebele Barber, van den Boogaard, Marie-José Henriette

Volltext

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands von Wurfbain, Lisca Florence, Cox, Inge Lucia, van Dooren, Maria Francisca, Lachmeijer, Augusta Maria Antonia, Verhoeven, Virginie Johanna Maria, van Hagen, Johanna Maria, Heijligers, Malou, Klein Wassink - Ruiter, Jolien Sietske, Koene, Saskia, Maas, Saskia Mariska, Veenstra - Knol, Hermine Elisabeth, Ploos van Amstel, Johannes Kristian, Massink, Maarten Pieter Gerrit, Mink van der Molen, Aebele Barber, van den Boogaard, Marie-José Henriette

Volltext

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum von Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, Giurgea, Irina

Volltext

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype von Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

Volltext

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder von Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs‐Hoeijmakers, Janneke, Boon, Elles M. J., Hagen, Johanna M., Zwijnenburg, Petra, Weiss, Marjan M., Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G., Kotzot, Dieter, Mayr, Johannes A., Ben‐Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S., Walsh, Christopher A., Shashi, Vandana, Sullivan, Jennifer A., Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne‐Marie, Charollais, Aude, Rodan, Lance H.

Volltext

T-helper 17 cell cytokines and interferon type I: partners in crime in systemic lupus erythematosus? von Brkic, Zana, Corneth, Odilia B J, van Helden-Meeuwsen, Cornelia G, Dolhain, Radboud J E M, Maria, Naomi I, Paulissen, Sandra M J, Davelaar, Nadine, van Hamburg, Jan Piet, van Daele, Paul L, Dalm, Virgil A, van Hagen, P Martin, Hazes, Johanna M W, Versnel, Marjan A, Lubberts, Erik

Volltext

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes von Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.

Volltext

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile von Rots, Dmitrijs, Rooney, Kathleen, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Pfundt, Rolph, Marcelis, Carlo, Willemsen, Marjolein H., Hagen, Johanna M., Zwijnenburg, Petra, Alders, Marielle, Õunap, Katrin, Reimand, Tiia, Fjodorova, Olga, Berland, Siren, Liahjell, Eva Benedicte, Bojovic, Ognjen, Kriek, Marjolein, Ruivenkamp, Claudia, Bonati, Maria Teresa, Brunner, Han G., Vissers, Lisenka E. L. M., Sadikovic, Bekim, Kleefstra, Tjitske

Volltext

Further delineation of Malan syndrome von Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

Volltext

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome von Maas, Saskia M, Shaw, Adam C, Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R, Cobben, JanMaarten, de Man, Stella A, Den Hollander, Nicolette S, Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C, Hoogeboom, A. Jeannette M, Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B, Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B, Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M, Verheij, Joke B.G.M, Mannens, Marcel M, Hennekam, Raoul C

Volltext

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome von Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J M, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W, Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W E, Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M, Bijlsma, Emilia K, Hakonen, Anna H, Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L, Welling, Lindsey, Plomp, Astrid S, Vanhoutte, Els K, Kalsner, Louisa, Hol, Janna A, Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M L, van Gassen, Koen L I, Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L, Sadikovic, Bekim, Brunner, Han G, Vissers, Lisenka E L M, Shinkai, Yoichi, Kleefstra, Tjitske

Volltext

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome von Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske

Volltext

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants von van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid S., Mannens, Marcel M.A.M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.

Volltext

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M

Volltext

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability von Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M. M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M. J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K. L., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., Yang, Xiang-Jiao

Volltext

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

Volltext

Enhanced identification of endocrine disruptors through integration of science-based regulatory practices and innovative methodologies: The MERLON Project von Svingen, Terje, Andersson, Anna-Maria, Angelova, Julianna, Axelstad, Marta, Bakker, Julie, Baumann, Lisa, Beronius, Anna, Bouftas, Nora, Chalmel, Frederic, Christiansen, Sofie, Cornil, Charlotte, Damdimopoulou, Pauliina, Deepika, Deepika, Dollé, Martijn E T, Draskau, Monica Kam, Fischer, Margit Bistrup, Hagen, Casper P, Hessel, Ellen, Holmer, Marie Louise, Hughes, Samantha, Jensen, Genon, Johansson, Hanna Katarina Lilith, Juul, Anders, Kumar, Vikas, Kumar, Saurav, Lardenois, Aurélie, Main, Katharina M, Mazaud-Guittot, Severine, Moe, S Jannicke, Mola, Gylli, Parent, Anne-Simone, Pineda, Rafael, Rolland, Antoine, Rosenmai, Anna Kjerstine, Song, You, Suglia, Antonio, Tena-Sempere, Manuel, Wehrli, Lydia, Zilliacus, Johanna, van Duursen, Majorie

Volltext

Enhanced identification of endocrine disruptors through integration of science-based regulatory practices and innovative methodologies: The MERLON Project von Svingen, Terje, Andersson, Anna-Maria, Angelova, Julianna, Axelstad, Marta, Bakker, Julie, Baumann, Lisa, Beronius, Anna, Bouftas, Nora, Chalmel, Frederic, Christiansen, Sofie, Cornil, Charlotte, Damdimopoulou, Pauliina, Deepika, Deepika, Dollé, Martijn E. T., Draskau, Monica Kam, Fischer, Margit Bistrup, Hagen, Casper P., Hessel, Ellen, Holmer, Marie Louise, Hughes, Samantha, Jensen, Genon, Johansson, Hanna Katarina Lilith, Juul, Anders, Kumar, Vikas, Kumar, Saurav, Lardenois, Aurélie, Main, Katharina M., Mazaud-Guittot, Severine, Moe, S. Jannicke, Mola, Gylli, Parent, Anne-Simone, Pineda, Rafael, Rolland, Antoine, Rosenmai, Anna Kjerstine, Song, You, Suglia, Antonio, Tena-Sempere, Manuel, Wehrli, Lydia, Zilliacus, Johanna, van Duursen, Majorie

Volltext

Enhanced identification of endocrine disruptors through integration of science-based regulatory practices and innovative methodologies: The MERLON Project von Svingen, Terje, Andersson, Anna-Maria, Angelova, Julianna, Axelstad, Marta, Bakker, Julie, Baumann, Lisa, Beronius, Anna, Bouftas, Nora, Chalmel, Frederic, Christiansen, Sofie, Cornil, Charlotte, Damdimopoulou, Pauliina, Deepika, Deepika, Dollé, Martijn E. T, Draskau, Monica Kam, Fischer, Margit Bistrup, Hagen, Casper P, Hessel, Ellen, Holmer, Marie Louise, Hughes, Samantha, Jensen, Genon, Johansson, Hanna Katarina Lilith, Juul, Anders, Kumar, Vikas, Kumar, Saurav, Lardenois, Aurélie, Main, Katharina M, Mazaud-Guittot, Severine, Moe, S. Jannicke, Mola, Gylli, Parent, Anne-Simone, Pineda, Rafael, Rolland, Antoine, Rosenmai, Anna Kjerstine, Song, You, Suglia, Antonio, Tena-Sempere, Manuel, Wehrli, Lydia, Zilliacus, Johanna, van Duursen, Majorie

Volltext bestellen

Missense variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes von Maia, Nuno, Ibarluzea, Nekane, Misra-Isrie, Mala, Koboldt, Daniel C, Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M, Keski-Filppula, Riikka, Guitart, Maria, Gabau, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa-Aranzasti, Amaia, Cueto-González, Anna Mª, Chhouk, Brian H, Yeh, Rebecca C, Neil, Jennifer E, Abu-Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W, Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, van Bokhoven, Hans, Jorge, Paula, van Hagen, Johanna M, de Brouwer, Arjan P. M, Universitat Autònoma de Barcelona

Volltext bestellen