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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Axenfeld-Rieger syndrome: more than meets the eye
Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
Moravikova, Jana, Honzik, Tomas, Jadvidzakova, Eva, Zdrahalova, Katerina, Kremlikova Pourova, Radka, Korbasova, Marta, Liskova, Petra, Dudakova, Lubica
Published in Journal of AAPOS (01.12.2020)
Published in Journal of AAPOS (01.12.2020)
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The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
Jackson, Leigh, O'Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W, Pourova, Radka Kremlíková, Macek, Jr, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
Tesner, Pavel, Vlckova, Marketa, Drabova, Jana, Vseticka, Jan, Klimova, Anna, Lastuvkova, Jana, Zidovska, Jana, Kremlikova Pourova, Radka, Hancarova, Miroslava, Sedlacek, Zdenek, Kocarek, Eduard
Published in Cytogenetic and genome research (01.01.2018)
Published in Cytogenetic and genome research (01.01.2018)
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Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
Čopíková, Jana, Paděrová, Jana, Románková, Věra, Havlovicová, Markéta, Balaščáková, Miroslava, Zelinová, Michaela, Vejvalková, Šárka, Simandlová, Martina, Štěpánková, Jana, Hořínová, Věra, Kantorová, Eva, Křečková, Gabriela, Pospíšilová, Jana, Boday, Arpád, Meszarosová, Anna Uhrová, Turnovec, Marek, Votýpka, Pavel, Lišková, Petra, Kremlíková Pourová, Radka
Published in Annals of human genetics (01.09.2020)
Published in Annals of human genetics (01.09.2020)
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Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, MacekJr, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis
Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Jr, Milan, Kremlíková Pourová, Radka
Published in Metabolites (06.05.2020)
Published in Metabolites (06.05.2020)
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Li, Dong, Battig, Mark R, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Harr, Margaret H, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Wright, Meredith, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Byler, Melissa, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Martinez-Agosto, Julian A, Rabani, Ahna M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Wilson, Ashley, Jizi, Khadijé, Quelin, Chloé, Chick, Erika, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana, Cordeiro, Dawn, Carnevale, Amanda, Funalot, Benoît, Tran Mau-Them, Frederic, Fernandez Garcia Moya, Luis, Chad, Lauren, Li, Chumei, Sanchez-Valle, Amarilis, Sulem, Patrick, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Hadj Habdallah, Hamza, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Pfundt, Rolph, de Vries, Bert Ba, van Slegtenhorst, Marjon A, Brooks, Alice S, Cogne, Benjamin, Zackai, Elaine H, Song, Yuanquan, Hakonarson, Hakon
Published in The Journal of clinical investigation (01.01.2024)
Published in The Journal of clinical investigation (01.01.2024)
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Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021
Burdová, Marie Česká, Štěpánková, Jana, Pourová, Radka Kremlíková, Mahelková, Gabriela, Hložánek, Martin, Kožner, Pavel, Dotřelová, Dagmar
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2023)
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2023)
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Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
Čopíková, Jana, Katra, Rami, Kremlíková Pourová, Radka
Published in Otorinolaryngologie a foniatrie (20.03.2021)
Published in Otorinolaryngologie a foniatrie (20.03.2021)
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Journal Article
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 (01.01.2018)
Published in Molecular cytogenetics (01.01.2018)
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E L M, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M, Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A C, Vitobello, Antonio, Schulze-Hentrich, Julia M, Riess, Olaf, Brunner, Han G, Brookes, Anthony J, Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1
Petrák, Bořivoj, Zemková, Daniela, Seeman, Pavel, Tesner, Pavel, Kremlíková Pourová, Radka
Published in Česká a Slovenská neurologie a neurochirurgie (30.04.2021)
Published in Česká a Slovenská neurologie a neurochirurgie (30.04.2021)
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Solving unsolved rare neurological diseases-a Solve-RD viewpoint
Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E, Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian
Published in Human genomics (03.05.2023)
Published in Human genomics (03.05.2023)
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Journal Article
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Timmann, Dagmar, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Macaya, Alfons, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Vandrovcova, Jana, Matalonga, Leslie, Synofzik, Matthis, Ellwanger, Kornelia, Sturm, Marc, Heutink, Peter, Hoischen, Alexander, Vissers, Lisenka E. L. M., Steyaert, Wouter, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Gibson, Spencer, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Tisserant, Emilie, Bruel, Ange-Line, Pélissier, Aurore, Gut, Ivo Glynne, Laurie, Steven, Bullich, Gemma, Garcia, Carles, Paramonov, Ida, Gumus, Gulcin, Rath, Ana, Olry, Annie, Heinzmann, Anna, Evangelista, Teresinha, Allamand, Valérie, Yaou, Rabah Ben, Eymard, Bruno, Stojkovic, Tanya, Macek, Milan, Kremliková, Radka Pourová, Franková, Vera, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Reilly, Mary, Muntoni, Francesco, de Jonghe, Peter, Piluso, Giulio, Selvatici, Rita, Neri, Marcella, Matos, Ana Rita, Ferreira, Marta, Garrido, Luzia, Ferreira, Pedro, Swertz, Morris A., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Varavallo, Alessandra, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Benetti, Elisa, Herzog, Rebecca, Thompson, Rachel, Beeson, David, Cossins, Judith, Savarese, Marco, Capella, Gabriel, Holinski-Feder, Elke, Laner, Andreas, Schröck, Evelin
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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