Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Autor: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

Publikováno v: In Human Genetics and Genomics Advances 18 July 2024 5(3)

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

Autor: Vesela Kamila, Ilencikova Denisa, Kotlas Jaroslav, Zidkova Katerina, Kebrdlova Vera, Sulova Martina, Stekrova Jitka, Kohoutova Milada

Publikováno v: BMC Medical Genetics, Vol 8, Iss 1, p 16 (2007)

Abstract Background Germline mutations in the adenomatous polyposis gene (APC) result in familial adenomatous polyposis (FAP). FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is characterized by hundre

Externí odkaz: https://doaj.org/article/1fab2faa75154832a4ce076c74149a37

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Autor: Bodo, Sahra, Colas, Chrystelle, Buhard, Olivier, Collura, Ada, Tinat, Julie, Lavoine, Noémie, Guilloux, Agathe, Chalastanis, Alexandra, Lafitte, Philippe, Coulet, Florence, Buisine, Marie-Pierre, Ilencikova, Denisa, Ruiz-Ponte, Clara, Kinzel, Miriam, Grandjouan, Sophie, Brems, Hilde, Lejeune, Sophie, Blanché, Hélène, Wang, Qing, Caron, Olivier, Cabaret, Odile, Svrcek, Magali, Vidaud, Dominique, Parfait, Béatrice, Verloes, Alain, Knappe, Ulrich J., Soubrier, Florent, Mortemousque, Isabelle, Leis, Alexander, Auclair-Perrossier, Jessie, Frébourg, Thierry, Fléjou, Jean-François, Entz-Werle, Natacha, Leclerc, Julie, Malka, David, Cohen-Haguenauer, Odile, Goldberg, Yael, Gerdes, Anne-Marie, Fedhila, Faten, Mathieu-Dramard, Michèle, Hamelin, Richard, Wafaa, Badre, Gauthier-Villars, Marion, Bourdeaut, Franck, Sheridan, Eamonn, Vasen, Hans, Brugières, Laurence, Wimmer, Katharina, Muleris, Martine, Duval, Alex

Publikováno v: In Gastroenterology October 2015 149(4):1017-1029

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