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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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 SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Cappuccio, Gerarda, Sayou, Camille, Tanno, Pauline Le, Tisserant, Emilie, Bruel, Ange-Line, Kennani, Sara El, Sá, Joaquim, Low, Karen J, Dias, Cristina, Havlovicová, Markéta, Hančárová, Miroslava, Eichler, Evan E, Devillard, Françoise, Moutton, Sébastien, Van-Gils, Julien, Dubourg, Christèle, Odent, Sylvie, Gerard, Bénédicte, Piton, Amélie, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Firth, Helen, Metcalfe, Kay, Moh, Anna, Chapman, Kimberly A, Aref-Eshghi, Erfan, Kerkhof, Jennifer, Torella, Annalaura, Nigro, Vincenzo, Perrin, Laurence, Piard, Juliette, Le Guyader, Gwenaël, Jouan, Thibaud, Thauvin-Robinet, Christel, Duffourd, Yannis, George-Abraham, Jaya K, Buchanan, Catherine A, Williams, Denise, Kini, Usha, Wilson, Kate, Sousa, Sérgio B, Hennekam, Raoul C M, Sadikovic, Bekim, Thevenon, Julien, Govin, Jérôme, Vitobello, Antonio, Brunetti-Pierri, Nicola
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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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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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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A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing
Makukh, Halyna, Křenková, Petra, Tyrkus, Marta, Bober, Lyudmyla, Hančárová, Miroslava, Hnateyko, Oleh, Macek, Milan
Published in Journal of cystic fibrosis (01.09.2010)
Published in Journal of cystic fibrosis (01.09.2010)
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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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Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
Hancarova, Miroslava, Havlovicova, Marketa, Putzova, Martina, Vseticka, Jan, Prchalova, Darina, Stranecky, Viktor, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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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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Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
Slamova, Zuzana, Nazaryan‐Petersen, Lusine, Mehrjouy, Mana M., Drabova, Jana, Hancarova, Miroslava, Marikova, Tatana, Novotna, Drahuse, Vlckova, Marketa, Vlckova, Zdenka, Bak, Mads, Zemanova, Zuzana, Tommerup, Niels, Sedlacek, Zdenek
Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Hypophosphatasia due to uniparental disomy
Hancarova, Miroslava, Krepelova, Anna, Puchmajerova, Alena, Soucek, Ondrej, Prchalova, Darina, Sumnik, Zdenek, Sedlacek, Zdenek
Published in Bone (New York, N.Y.) (01.12.2015)
Published in Bone (New York, N.Y.) (01.12.2015)
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M
Published in European journal of human genetics : EJHG (27.04.2024)
Published in European journal of human genetics : EJHG (27.04.2024)
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A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Mannik, Katrin, Kurg, Ants, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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FOXP1-related intellectual disability syndrome: a recognisable entity
Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L. E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., Bryant, Laura M.
Published in European journal of human genetics : EJHG (26.07.2024)
Published in European journal of human genetics : EJHG (26.07.2024)
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