日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics

鼻咽拭子样本中ATP7B mRNA的分析提高了威尔逊病分子遗传诊断的检出率

Lenka Steiner Mrázová,Alena Vrbacká,Filip Majer,Viktor Stránecký,Lenka Nosková,Daniela Záhoráková,Jitka Májovská,Ibrahim Bitar,Jiří Klempíř,Jana Šaligová,Stella Majlingová,Mária Giertlová,Petra Drenčáková,Denisa Harvanová,Pavla Solařová,Radan Brůha,Petr Dušek,Stanislav Kmoch,Jakub Sikora,Ivana Jedličková

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease

常染色体显性遗传性肾小管间质性肾病中与慢性肾脏病分期相关的血浆代谢物

Mušálková, Dita; Radina, Martin; Kidd, Kendrah; Hartmannová, Hana; Trešlová, Helena; Hodaňová, Kateřina; Vyleťal, Petr; Vrbacká, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Rudl Kulhavá, Lucie; Hricko, Jiří; Čajka, Tomáš; Živná, Martina; Bleyer, Anthony J; Kmoch, Stanislav

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response

α-半乳糖苷酶A的错误加工、内质网应激和未折叠蛋白反应

Živná, Martina; Dostálová, Gabriela; Barešová, Veronika; Mušálková, Dita; Svojšová, Klára; Meiseles, Doria; Kinstlinger, Sara; Kuchař, Ladislav; Asfaw, Befekadu; Poupětová, Helena; Vlášková, Hana; Kmochová, Tereza; Vyleťal, Petr; Hartmannová, Hana; Hodaňová, Kateřina; Stránecký, Viktor; Steiner-Mrázová, Lenka; Hnízda, Aleš; Živný, Jan; Radina, Martin; Votruba, Miroslav; Sovová, Jana; Trešlová, Helena; Stolnaja, Larisa; Reková, Petra; Roblová, Lenka; Honsová, Eva; Rychlík, Ivan; Dvela-Levitt, Moran; Bleyer, Anthony J; Linhart, Aleš; Sikora, Jakub; Kmoch, Stanislav

Characterization of Monogenic Kidney Disease in Older Patients With CKD

老年慢性肾脏病患者单基因肾脏病的特征分析

Elhassan, Elhussein A E; Cormican, Sarah; Osman, Shohdan M; Sarihan, Sahin; Teltsh, Omri; Poynton, Fergus E; Griffin, Matthew D; Casserly, Liam; McCann, Emma; Bleyer, Anthony J Sr; Kmoch, Stanislav; Živná, Martina; Benson, Katherine A; Cavalleri, Gianpiero L; Conlon, Peter J

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

PAICS 缺陷的临床谱系不断扩大:对两例同胞病例的综合分析

Weng Wen-Chin, Skopova Vaclava, Baresova Veronika, Liu Yao-Lin, Hsueh Hsueh-Wen, Chien Yin-Hsiu, Hwu Wuh-Liang, Souckova Olga, Hnizda Ales, Kmoch Stanislav, Lee Ni-Chung, Zikanova Marie

Differential regulation of gene co-expression modules in muscles and liver of preterm newborns

早产儿肌肉和肝脏中基因共表达模块的差异性调控

Janovska, Petra; Kobets, Tatyana; Steiner Mrazova, Lenka; Svobodova, Michaela; Tesarova, Marketa; Kopecky, Pavel; Zouhar, Petr; Rossmeisl, Martin; Stranecky, Viktor; Kmoch, Stanislav; Kopecky, Jan

Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis

磷酸核糖甲酰甘氨酰胺合成酶(PFAS)缺乏症:嘌呤从头合成中一种新型缺陷的临床、遗传和代谢特征

Zikanova, Marie; Skopova, Vaclava; Stuurman, Kyra E; Baresova, Veronika; Souckova, Olga; Hnizda, Ales; Krijt, Matyas; Bleyer, Anthony J; Zeman, Jiri; Kmoch, Stanislav

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

针对50岁以上慢性肾病成年患者的基因检测:肾脏遗传专科诊所的诊断率和临床意义

Schott, Clara; Alajmi, Mohammad; Bukhari, Mohammad; Relouw, Sydney; Wang, Jian; McIntyre, Adam D; Baker, Cadence; Colaiacovo, Samantha; Campagnolo, Carla; Almada Offerni, Gabriela; Blake, Peter G; Chiu, Micheal; Cowan, Andrea; Garg, Amit X; Gunaratnam, Lakshman; House, Andrew A; Huang, Shih-Han Susan; Iyer, Hariharan; Jain, Arsh K; Jevnikar, Anthony M; Johnson, John; Lotfy, Khaled; Moist, Louise; Rehman, Faisal; Roshanov, Pavel S; Sultan, Nabil; Weir, Matthew A; Basharat, Pari; Florendo-Cumbermack, Anita; Khan, Tayyab; Thain, Jenny; Kidd, Kendrah; Kmoch, Stanislav; Bleyer, Anthony J; Bhangu, Jaspreet; Hegele, Robert A; Connaughton, Dervla M

Faster postnatal decline in hepatic erythropoiesis than granulopoiesis in human newborns.

人类新生儿出生后肝脏红细胞生成能力下降速度快于粒细胞生成能力下降速度

Janovska Petra, Bardova Kristina, Prouzova Zuzana, Irodenko Ilaria, Kobets Tatyana, Haasova Eliska, Steiner Mrazova Lenka, Stranecky Viktor, Kmoch Stanislav, Rossmeisl Martin, Zouhar Petr, Kopecky Jan