CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina S, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu P, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien S Klein, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics
Prochazkova, Kamila, Novotny, Petr, Hancarova, Miroslava, Prchalova, Darina, Sedlacek, Zdenek
Published in BMC medical education (24.10.2019)
Published in BMC medical education (24.10.2019)
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Necpál, Ján, Zech, Michael, Valachová, Alica, Sedláček, Zdeněk, Bendová, Šárka, Hančárová, Miroslava, Okáľová, Katarína, Winkelmann, Juliane, Jech, Robert
Published in Parkinsonism & related disorders (01.08.2020)
Published in Parkinsonism & related disorders (01.08.2020)
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Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
Prchalova, Darina, Havlovicova, Marketa, Sterbova, Katalin, Stranecky, Viktor, Hancarova, Miroslava, Sedlacek, Zdenek
Published in BMC medical genetics (02.06.2017)
Published in BMC medical genetics (02.06.2017)
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Hiatt, Susan M, Neu, Matthew B, Ramaker, Ryne C, Hardigan, Andrew A, Prokop, Jeremy W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D, Suchy, Sharon F, Willaert, Rebecca, Wentzensen, Ingrid M, Wheeler, Patricia G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna C E, Wheless, James W, Lacassie, Yves, Myers, Richard M, Barsh, Gregory S, Sedlacek, Zdenek, Cooper, Gregory M
Published in PLoS genetics (30.11.2018)
Published in PLoS genetics (30.11.2018)
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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation
Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
Musova, Zuzana, Mazanec, Radim, Krepelova, Anna, Ehler, Edvard, Vales, Jiri, Jaklova, Radka, Prochazka, Tomas, Koukal, Petr, Marikova, Tatana, Kraus, Josef, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients
Vasovcak, Peter, Pavlikova, Kristyna, Sedlacek, Zdenek, Skapa, Petr, Kouda, Martin, Hoch, Jiri, Krepelova, Anna
Published in PloS one (25.08.2011)
Published in PloS one (25.08.2011)
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A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases
Mejstríková, Ester, Janda, Ales, Hrusák, Ondrej, Bucková, Hana, Vlcková, Markéta, Hancárová, Miroslava, Freiberger, Tomás, Ravcuková, Barbora, Vesely, Karel, Fajkusová, Lenka, Kopecková, Lenka, Sumerauer, David, Kabícková, Edita, Sedivá, Anna, Stary, Jan, Sedlácek, Zdenek
Published in Pediatrics (Evanston) (01.02.2012)
Published in Pediatrics (Evanston) (01.02.2012)
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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature
Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa
Published in Molecular cytogenetics (09.05.2018)
Published in Molecular cytogenetics (09.05.2018)
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Subtypes of autism by cluster analysis based on structural MRI data
HRDLICKA, Michal, DUDOVA, Iva, BLATNY, Marek, URBANEK, Tomas, BERANOVA, Irena, LISY, Jiri, BELSAN, Tomas, NEUWIRTH, Jiri, KOMAREK, Vladimir, FALADOVA, Ludvika, HAVLOVICOVA, Marketa, SEDLACEK, Zdenek
Published in European child & adolescent psychiatry (01.06.2005)
Published in European child & adolescent psychiatry (01.06.2005)
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Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer
Trkova, Marie, Babjuk, Marko, Duskova, Jaroslava, Benesova-Minarikova, Lucie, Soukup, Viktor, Mares, Jaroslav, Minarik, Marek, Sedlacek, Zdenek
Published in Cancer letters (08.10.2006)
Published in Cancer letters (08.10.2006)
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Journal Article
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
El Chehadeh, Salima, Kerstjens-Frederikse, Wilhelmina, Thevenon, Julien, Kuentz, Paul, Bruel, Ange-Line, Thauvin-Robinet, Christel, Bensignor, Candace, Dollfus, Hélène, Laugel, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Bonnet, Caroline, Robert, Matthieu, Isaiko, Rodica, Straub, Morgane, Creuzot-Garcher, Catherine, Calvas, Patrick, Chassaing, Nicolas, Loeys, Bart, Reyniers, Edwin, Vandeweyer, Geert, Kooy, Frank, Hančárová, Miroslava, Havlovicová, Marketa, Prchalová, Darina, Sedláček, Zdenek, Gilissen, Christian, Pfundt, Rolph, Wassink-Ruiter, Jolien, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.01.2017)
Published in European journal of human genetics : EJHG (01.01.2017)
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Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?
Trkova, Marie, Hladikova, Marie, Kasal, Pavel, Goetz, Petr, Sedlacek, Zdenek
Published in Journal of human genetics (01.08.2002)
Published in Journal of human genetics (01.08.2002)
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