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3 results for Sovová,+Jana

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ArticlesPeer ReviewedFull Text
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Author / Creator:Kirby, Andrew ; Gnirke, Andreas ; Jaffe, David B ; Barešová, Veronika ; Pochet, Nathalie ; Blumenstiel, Brendan ; Ye, Chun ; Aird, Daniel ; Stevens, Christine ; Robinson, James T ; Cabili, Moran N ; Gat-Viks, Irit ; Kelliher, Edward ; Daza, Riza ; DeFelice, Matthew ; Hůlková, Helena ; Sovová, Jana ; Vylet'al, Petr ; Antignac, Corinne ; Guttman, Mitchell ; Handsaker, Robert E ; Perrin, Danielle ; Steelman, Scott ; Sigurdsson, Snaevar ; Scheinman, Steven J ; Sougnez, Carrie ; Cibulskis, Kristian ; Parkin, Melissa ; Green, Todd ; Rossin, Elizabeth ; Zody, Michael C ; Xavier, Ramnik J ; Pollak, Martin R ; Alper, Seth L ; Lindblad-Toh, Kerstin ; Gabriel, Stacey ; Hart, P Suzanne ; Regev, Aviv ; Nusbaum, Chad ; Kmoch, Stanislav ; Bleyer, Anthony J ; Lander, Eric S ; Daly, Mark J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-03, Vol.45 (3), p.299-303
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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Author / Creator:Jedličková, Ivana ; Cadieux-Dion, Maxime ; Přistoupilová, Anna ; Stránecký, Viktor ; Hartmannová, Hana ; Hodaňová, Kateřina ; Barešová, Veronika ; Hůlková, Helena ; Sikora, Jakub ; Nosková, Lenka ; Mušálková, Dita ; Vyleťal, Petr ; Sovová, Jana ; Cossette, Patrick ; Andermann, Eva ; Andermann, Frederick ; Kmoch, Stanislav
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.783-789
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AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Author / Creator:Zivna, Martina ; Dostalova, Gabriela ; Baresova, Veronika ; Musalkova, Dita ; Kuchar, Ladislav ; Befekadu Asfaw ; Poupetova, Helena ; Vlaskova, Hana ; Kmochova, Tereza ; Vyletal, Petr ; Hartmannova, Hana ; Hodanova, Katerina ; Stranecky, Viktor ; Steiner-Mrazova, Lenka ; Hnizda, Ales ; Radina, Martin ; Votruba, Miroslav ; Sovova, Jana ; Treslova, Helena ; Stolnaja, Larisa ; Rekova, Petra ; Roblova, Lenka ; Honsova, Eva ; Hulkova, Helena ; Rychlik, Ivan ; Bleyer, Anthony J ; Linhart, Ales ; Sikora, Jakub ; Kmoch, Stanislav
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-09
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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Export this record

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AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

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