Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency by Vasovcak, P., Krepelova, A., Menigatti, M., Puchmajerova, A., Skapa, P., Augustinakova, A., Amann, G., Wernstedt, A., Jiricny, J., Marra, G., Wimmer, K.

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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk by Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K, Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J, Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S, Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D Gareth R, Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B, González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N A, Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E, Rosseel, Toon, Ruddy, Kathryn J, Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E, Trentham-Dietz, Amy, Vachon, Celine M, Volk, Alexander E, Weber-Lassalle, Nana, Weitzel, Jeffrey N, Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B, Vega, Ana, Rossing, Maria

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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek Jr, M.

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P26.08: Outcome of euploid fetuses following diagnosis of complete atrioventricular septal defect (one year overview) by Spalova, I., Tomek, V., Puchmajerova, A., Novotna, D., Simandlova, M., Vlk, R.

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RENAL DEVELOPMENT AND CYSTIC DISEASES by Cabrera-Lopez, C., Ars, E., Marti, T., Harris, P. C., Torra, R., Clerckx, C., Migeon, T., Chen, Z., Ronco, P., Plaisier, E., Lamers, I. J., Van Reeuwijk, J., Azam, M., Boldt, K., Maria, M., Koster-Kamphuis, L., Qamar, R., Ueffing, M., Cremers, F. P., Roepman, R., Arts, H. H., Papizh, S., Dlin, V., Leontieva, I., Tutelman, K., Perrone, R. D., Bae, K. T., Chapman, A. B., Devuyst, O., Gansevoort, R. T., Grantham, J. J., Higashihara, E., Torres, V. E., Sergeyeva, O., Zhou, W., Blais, J. D., Czerwiec, F. S., Liu, F., Liao, Y., Fu, P., Casteleijn, N., Zittema, D., Bakker, S., Boertien, W., Gaillard, C., Meijer, E., Spithoven, E., Struck, J., Gansevoort, R., Robinson, P., McEwan, P., Hadimeri, H., Ong, A. C. M., Orskov, B., Peces, R., Sandford, R., Scolari, F., Walz, G., Cooke, C., O'Reilly, K., Riwanto, M., Kapoor, S., Rodriguez, D., Edenhofer, I., Segerer, S., Wuthrich, R. P., De Rechter, S., Bacchetta, J., Van Dyck, M., Evenepoel, P., De Schepper, J., Levtchenko, E., Mekahli, D., Carr, A., Makin, A., Baker, A., Obeidova, L., Stekrova, J., Seeman, T., Puchmajerova, A., Reiterova, J., Kohoutova, M., Tesar, V., Treille, S., Bailly, J.-M., Guillaume, B., Tuta, L., Stanigut, A., Botea, F., Jo, H. A., Park, H. C., Kim, H., Han, M., Huh, H., Jeong, J. C., Oh, K.-H., Yang, J., Koo, T. Y., Hwang, Y.-H., Ahn, C.

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THE PROMYELOCYTIC LEUKEMIA PROTEIN: FROM ANTIVIRAL RESPONSE TO CANCER by Plevova, P, Jeziskova, I, Walczyskova, S, Krepelova, A, Pavlikova, K, Puchmajerova, A, Zapletalova, J, Silhanova, E

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DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion by Bartsch, Oliver, Nemecková, Michaela, Kocárek, Eduard, Wagner, Annett, Puchmajerová, Alena, Poppe, Maja, Ounap, Katrin, Goetz, Petr

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ATYPICAL TERATOID RHABDOID TUMOR (ATRT) by Hasselblatt, M., Kordes, U., Wolff, J., Jeibmann, A., Fruhwald, M., Paulus, W., Isken, S., Siebert, R., Schneppenheim, R., Benesch, M., Fleischhack, G., Gruhn, B., Schlegel, P.-G., Witt, O., Holter, W., Reiter, A., Urban, C., Fruhwald, M. C., Lafay-Cousin, L., Huang, A., Hawkins, C., Fryer, C., Bouffet, E., Kruchko, C., Propp, J., McCarthy, B., Dolecek, T., Kerl, K., Unland, R., Jurgens, H., Kieran, M. W., Roberts, C. W. M., Biegel, J. A., MacConaill, L. E., Rich, B. E., Ligon, K. L., Chi, S., Kondo, A., Shimoji, K., Ogino, I., Junya, F., Sakaguchi, S., Miyajima, M., Arai, H., Alimova, I., Knipstein, J., Harris, P., Venkataraman, S., Marquez, V., Birks, D., Foreman, N., Vibhakar, R., Bartelheim, K., Warmuth-Metz, M., Kortmann, R.-D., Gerss, J., Rizzo, D., Freneaux, P., Brisse, H., Parfait, B., Doz, F., Dufour, C., Stephan, J.-L., Edan, C., Ranchere-Vince, D., Peuchmaur, M., Delattre, O., Bourdeaut, F., Soh, S. Y., Chan, M. Y., Seow, W. T., Chang, K., Ng, W. H., Tan, A. M., Yamasaki, K., Tanaka, C., Okada, K., Fujisaki, H., Osugi, Y., Hara, J., Matsusaka, Y., Sakamoto, H., Inoue, T., Batchelder, P., DeMasters, B. K., Handler, M., Sumerauer, D., Vasovcak, P., Puchmajerova, A., Zapotocky, M., Vicha, A., Kyncl, M., Zamecnik, J., Sedlacek, Z., Kodet, R., Geludkova, O., Kumirova, E., Korshunov, A., Kushel, Y., Melikyan, A.

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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring: Molecular genetic and phenotypic analysis in 14 Czech Kabuki syndro... by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek, M.

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Hypophosphatasia due to uniparental disomy by Hancarova, Miroslava, Krepelova, Anna, Puchmajerova, Alena, Soucek, Ondrej, Prchalova, Darina, Sumnik, Zdenek, Sedlacek, Zdenek

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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease by Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka

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ENIGMA CHEK2 gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk by Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Matsuda, Koichi, Kamatani, Yoichiro, Morisaki, Takayuki, Nagai, Akiko, Muto, Kaori, Murakami, Yoshinori, Furukawa, Yoichi, Yamanashi, Yuji, Nakamura, Yusuke, Mushiroda, Taisei, Momozawa, Yukihide, Tanaka, Toshihiro, Ohnishi, Yozo, Kubo, Michiaki, Higashiue, Shinichi, Kobayashi, Shuzo, Minami, Shiro, Yamaguhci, Hiroki, Arai, Hajime, Yamaji, Ken, Okazaki, Yasushi, Asai, Satoshi, Takahashi, Yasuo, Fujioka, Tomoaki, Obara, Wataru, Mori, Seijiro, Murayama, Shigeo, Nagayama, Satoshi, Miki, Yoshio, Masumoto, Akihide, Yamada, Akira, Nishizawa, Yasuko, Higashiyama, Masahiko, Kutsumi, Hiromu, Koretsune, Yukihiro, Yoshiyama, Takashi, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Borecka, Marianna, Cerna, Marta, Hovhannisyan, Milena, Jelinkova, Sandra, Nehasil, Petr, Foretova, Lenka, Machackova, Eva, Krutilkova, Vera, Tavandzis, Spiros, Cerna, Leona, Chvojka, Stepan, Koudova, Monika, Puchmajerova, Alena, Havranek, Ondrej, Novotny, Jan, Vesela, Kamila, Vocka, Michal, Hruskova, Lucie, Michalovska, Renata, Schwetzova, Denisa, Vlckova, Zdenka, Cerna, Monika, Hejnalova, Marketa, Jedlickova, Nikol, Subrt, Ivan, Zavoral, Tomas, Kosarova, Marcela, Vacinova, Gabriela, Janikova, Maria, Kratochvilova, Romana, Curtisova, Vaclava, Vrtel, Radek, Scheinost, Ondrej, Duskova, Petra, Stranecky, Viktor, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa

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Germline multigene panel testing of patients with endometrial cancer by Machackova, Eva, Otahalova, Barbora, Soukupova, Jana, Krutilkova, Vera, Kleiblova, Petra, Novotny, Jan, Zima, Tomas, Tavandzis, Spiros, Vocka, Michal, Zikan, Michal, Safarikova, Marketa, Kosarova, Marcela, Koudova, Monika, Chvojka, Stepan, Jelinkova, Sandra, Hovhannisyan, Milena, Subrt, Ivan, Borecka, Marianna, Duskova, Petra, Kalousova, Marta, Stranecky, Viktor, Havranek, Ondrej, Zemankova, Petra, Puchmajerova, Alena, Horackova, Klara, Dostalek, Lukas, Kleibl, Zdenek, Foretova, Lenka, Slama, Jiri, Janatova, Marketa, Nehasil, Petr, Kral, Jan, Cerna, Marta, Cerna, Leona

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Deletions of 9q21.3 including NTRK2 are associated with severe phenotype by Hancarova, Miroslava, Puchmajerova, Alena, Drabova, Jana, Karaskova, Eliska, Vlckova, Marketa, Sedlacek, Zdenek

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Coarctation of the aorta in Noonan-like syndrome with loose anagen hair by Zmolikova, Michaela, Puchmajerova, Alena, Hecht, Petr, Lebl, Jan, Trkova, Marie, Krepelova, Anna

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Germline multigene panel testing of patients with endometrial cancer by Kral, Jan, Jelinkova, Sandra, Zemankova, Petra, Vocka, Michal, Borecka, Marianna, Cerna, Leona, Cerna, Marta, Dostalek, Lukas, Duskova, Petra, Foretova, Lenka, Havranek, Ondrej, Horackova, Klara, Hovhannisyan, Milena, Chvojka, Stepan, Kalousova, Marta, Kosarova, Marcela, Koudova, Monika, Krutilkova, Vera, Machackova, Eva, Nehasil, Petr, Novotny, Jan, Otahalova, Barbora, Puchmajerova, Alena, Safarikova, Marketa, Slama, Jiri, Stranecky, Viktor, Subrt, Ivan, Tavandzis, Spiros, Zikan, Michal, Zima, Tomas, Soukupova, Jana, Kleiblova, Petra, Kleibl, Zdenek, Janatova, Marketa

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Inherited ichthyoses: molecular causes of the disease in Czech patients by Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka

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Fanconi anemia with biallelic FANCD1 / BRCA2 mutations – Case report of a family with three affected children by Svojgr, Karel, Sumerauer, David, Puchmajerova, Alena, Vicha, Ales, Hrusak, Ondrej, Michalova, Kyra, Malis, Josef, Smisek, Petr, Kyncl, Martin, Novotna, Drahuse, Machackova, Eva, Jencik, Jan, Pycha, Karel, Vaculik, Miroslav, Kodet, Roman, Stary, Jan

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Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease by Fencl, Filip, Janda, Jan, Bláhová, Květa, Hříbal, Zdeněk, Štekrová, Jitka, Puchmajerová, Alena, Seeman, Tomáš

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Mutations in STK11 gene in Czech Peutz-Jeghers patients by Vasovcák, Peter, Puchmajerová, Alena, Roubalík, Jan, Krepelová, Anna

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