Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

Por Dudakova, Lubica, Palos, Michalis, Jirsova, Katerina, Stranecky, Viktor, Krepelova, Anna, Hysi, Pirro G, Liskova, Petra
Publicado no Eur J Hum Genet (2015)

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

Por Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta
Publicado em 2014

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Por Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J
Publicado no Eur J Hum Genet (2016)

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

Por Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
Publicado em 2008

Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation

Por Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Publicado em 2014

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Por Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Publicado em 2011

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Por Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Publicado em 2011

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Por van de Steeg, Evita, Stránecký, Viktor, Hartmannová, Hana, Nosková, Lenka, Hřebíček, Martin, Wagenaar, Els, van Esch, Anita, de Waart, Dirk R., Oude Elferink, Ronald P.J., Kenworthy, Kathryn E., Sticová, Eva, al-Edreesi, Mohammad, Knisely, A.S., Kmoch, Stanislav, Jirsa, Milan, Schinkel, Alfred H.
Publicado em 2012

Mutations in ANTXR1 Cause GAPO Syndrome

Por Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Publicado em 2013

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Por Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Publicado no Am J Hum Genet (2016)

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Por Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
Publicado em 2009

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Por Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J. H. M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Publicado em 2006

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado no Am J Hum Genet (2016)