The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations

por Bleyer, Anthony J., Kmoch, Stanislav
Publicado 2020

Carcinogenic effects of different nitroso-compounds in Chinese hamsters. I. Dimethylnitrosamine and N-diethylnitrosamine.

por Reznik, G., Mohr, U., Kmoch, N.
Publicado 1976

Adenylosuccinate lyase deficiency

por Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna
Publicado 2014

Increasing fragmentation of forest cover in Brazil’s Legal Amazon from 2001 to 2017

por Montibeller, Bruno, Kmoch, Alexander, Virro, Holger, Mander, Ülo, Uuemaa, Evelyn
Publicado 2020

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

por Baresova, Veronika, Skopova, Vaclava, Souckova, Olga, Krijt, Matyas, Kmoch, Stanislav, Zikanova, Marie
Publicado 2018

Bacteriophages as a Strategy to Protect Potato Tubers against Dickeya dianthicola and Pectobacterium carotovorum Soft Rot

por Beňo, Filip, Horsáková, Iveta, Kmoch, Martin, Petrzik, Karel, Krátká, Gabriela, Ševčík, Rudolf
Publicado 2022

The modification of the renal carcinogenicity of dimethylnitrosamine by actinomycin D and a protein deficient diet.

por Hilfrich, J., Haas, H., Kmoch, N., Montesano, R., Mohr, U., Magee, P. N.
Publicado 1975

Field Use of Protective Bacteriophages against Pectinolytic Bacteria of Potato

por Petrzik, Karel, Vacek, Josef, Kmoch, Martin, Binderová, Denisa, Brázdová, Sára, Lenz, Ondřej, Ševčík, Rudolf
Publicado 2023

Autosomal dominant tubulointerstitial kidney disease: A review

por Živná, Martina, Kidd, Kendrah O., Barešová, Veronika, Hůlková, Helena, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2022

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

por Souckova, Olga, Skopova, Vaclava, Baresova, Veronika, Sedlak, David, Bleyer, Anthony J., Kmoch, Stanislav, Zikanova, Marie
Publicado 2022

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

por Nosková, Lenka, Fukata, Yuko, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Fukata, Masaki, Kmoch, Stanislav
Publicado 2023

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice

por Nakajima, Kazuo, Miranda, Alannah, Craig, David W., Shekhtman, Tatyana, Kmoch, Stanislav, Bleyer, Anthony, Szelinger, Szabolcs, Kato, Tadafumi, Kelsoe, John R.
Publicado 2020

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

por Dudakova, Lubica, Stranecky, Viktor, Piherova, Lenka, Palecek, Tomas, Pontikos, Nikolas, Kmoch, Stanislav, Skalicka, Pavlina, Vaneckova, Manuela, Davidson, Alice E., Liskova, Petra
Publicado 2021

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

por Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Publicado 2020

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

por Buglioni, Alessia, Hasadsri, Linda, Nasr, Samih H., Hogan, Marie C., Moyer, Ann M., Siddique, Khurrum, Kidd, Kendrah, Kmoch, Stanislav, Hodaňová, Kateřina, Bleyer, Anthony J., Alexander, Mariam P.
Publicado 2021

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

por Lopes, L.B., Abreu, C.C., Souza, C.F., Guimaraes, L.E.R., Silva, A.A., Aguiar-Alves, F., Kidd, K.O., Kmoch, S., Bleyer, A.J., Almeida, J.R.
Publicado 2018

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022

por Musalkova, Dita, Piherova, Lenka, Kwasny, Ondrej, Dindova, Zuzana, Stancik, Lubor, Hartmannova, Hana, Slama, Otomar, Peckova, Petra, Pargac, Josef, Minarik, Gabriel, Zima, Tomas, Bleyer, Anthony J., Radina, Martin, Pohludka, Michal, Kmoch, Stanislav
Publicado 2023

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

por Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek
Publicado 2018

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

por Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G., Pengelly, Reuben J., Gale, Daniel P., Connor, Thomas M., Bunyan, David J., Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G.
Publicado 2018

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

por Sicking, Mark, Živná, Martina, Bhadra, Pratiti, Barešová, Veronika, Tirincsi, Andrea, Hadzibeganovic, Drazena, Hodaňová, Kateřina, Vyleťal, Petr, Sovová, Jana, Jedličková, Ivana, Jung, Martin, Bell, Thomas, Helms, Volkhard, Bleyer, Anthony J, Kmoch, Stanislav, Cavalié, Adolfo, Lang, Sven
Publicado 2022