Not logged inSingle-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav .png)
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SaveA Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial FibrosisElhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 MutationsVylet'al, Petr; Kidd, Kendrah; Ainsworth, Hannah C.; Springer, Drahomira; Vrbacka, Alena; Pristoupilova, Anna; Hughey, Rebecca P.; Alper, Seth L.; Lennon, Niall; Harrison, Steven; Harden, Maegan; Robins, Victoria; Taylor, Abbigail; Martin, Lauren; Howard, Katrice; Bitar, Ibrahim; Langefeld, Carl D.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J. Share Save Share Save NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion DiseaseJedlickova, Ivana; Pristoupilova, Anna; Hulkova, Helena; Vrbacka, Alena; Stranecky, Viktor; Hruba, Eva; Jesina, Pavel; Honzik, Tomas; Hrdlicka, Ivan; Fremuth, Jiri; Pivovarcikova, Kristyna; Bitar, Ibrahim; Matej, Radoslav; Kmoch, Stanislav; Sikora, Jakub Share Save Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingJedlickova, Ivana; Cadieux-Dion, Maxime; Pristoupilova, Anna; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Baresova, Veronika; Hulkova, Helena; Sikora, Jakub; Noskova, Lenka; Musalkova, Dita; Vyletal, Petr; Sovova, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav Share Save Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyTort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit; Ferrer-Cortes, Xenia; Arias, Angela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart-Mampel, Mariona; Garrabou, Gloria; Vaz, Frederick M.; Pristoupilova, Ana; Esteban Rodriguez, Maria Isabel; Beltran, Sergi; Cardellach, Francesc; Wanders, Ronald J. A.; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia Share Save Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseZivna, Martina; Kidd, Kendrah; Pristoupilova, Anna; Baresova, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Vrbacka, Alena; Vylet'al, Petr; Zivny, Jan; Votruba, Miroslav; Sovova, Jana; Hulkova, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomas; Viklicky, Ondrej; Rajnochova-Bloudickova, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav Share Save Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansionvan den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hulkova, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F.; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart Share Save Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)Berkovic, Samuel F.; Staropoli, John F.; Carpenter, Stirling; Oliver, Karen L.; Kmoch, Stanislav; Anderson, Glenn W.; Damiano, John A.; Hildebrand, Michael S.; Sims, Katherine B.; Cotman, Susan L.; Bahlo, Melanie; Smith, Katherine R.; Cadieux-Dion, Maxime; Cossette, Patrick; Jedlickova, Ivana; Pristoupilova, Anna; Mole, Sara E. Share Save Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav Share Save Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaBolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; 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; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; 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. Share Save Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancerEsteban-Jurado, Clara; Vila-Casadesus, Maria; Garre, Pilar; Lozano, Juan Jose; Pristoupilova, Anna; Beltran, Sergi; Munoz, Jenifer; Ocana, Teresa; Balaguer, Francesc; Lopez-Ceron, Maria; Cuatrecasas, Miriam; Franch-Exposito, Sebastia; Pique, Josep M.; Castells, Antoni; Carracedo, Angel; Ruiz-Ponte, Clara; Abuli, Anna; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldes, Trinidad; Castellvi-Bel, Sergi Share Save Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessKmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K. Share Save New genes emerging for colorectal cancer predispositionEsteban-Jurado, Clara; Garre, Pilar; Vila, Maria; Lozano, Juan Jose; Pristoupilova, Anna; Beltran, Sergi; Abuli, Anna; Munoz, Jenifer; Balaguer, Francesc; Ocana, Teresa; Castells, Antoni; Pique, Josep M.; Carracedo, Angel; Ruiz-Ponte, Clara; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldes, Trinidad; Castellvi-Bel, Sergi Share Save Mutations in ANTXR1 Cause GAPO SyndromeStranecky, Viktor; Hoischen, Alexander; Hartmannova, Hana; Zaki, Maha S.; Chaudhary, Amit; Zudaire, Enrique; Noskova, Lenka; Baresova, Veronika; Pristoupilova, Anna; Hodanova, Katerina; Sovova, Jana; Hulkova, Helena; Piherova, Lenka; Hehir-Kwa, Jayne Y.; de Silva, Deepthi; Senanayake, Manouri P.; Farrag, Sameh; Zeman, Jiri; Martasek, Pavel; Baxova, Alice; Afifi, Hanan H.; St Croix, Brad; Brunner, Han G.; Temtamy, Samia; Kmoch, Stanislav Share Save Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMelia, Maria J.; Kubota, Akatsuki; Ortolano, Saida; Vilchez, Juan J.; Gamez, Josep; Tanji, Kurenai; Bonilla, Eduardo; Palenzuela, Lluis; Fernandez-Cadenas, Israel; Pristoupilova, Anna; Garcia-Arumi, Elena; Andreu, Antoni L.; Navarro, Carmen; Hirano, Michio; Marti, Ramon Share Save Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58VEhling, Rainer; Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Hodanova, Katerina; Benke, Thomas; Kovacs, Gabor G.; Stroebel, Thomas; Niedermueller, Ulrike; Wagner, Michaela; Nachbauer, Wolfgang; Janecke, Andreas; Budka, Herbert; Boesch, Sylvia; Kmoch, Stanislav Share Save Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis (vol 89, pg 241, 2011)Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynelae, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav Share Save Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid LipofuscinosisNoskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Baresova, Veronika; Ivanek, Robert; Hulkova, Helena; Jahnova, Helena; van der Zee, Julie; Staropoli, John F.; Sims, Katherine B.; Tyynela, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C. G.; Mole, Sara E.; Elleder, Milan; Kmoch, Stanislav Share Save 
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