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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Proliferative verrucous leukoplakia management requires x-ray surveillance. A retrospective study of 78 cases

增生性疣状白斑的治疗需要进行X线监测。一项对78例病例的回顾性研究

Molnarova, Nikoleta; Liskova, Veronika; Malkus, Tomas; Hauerova, Petra; Andrle, Pavel; Hauer, Lukas; Topolcan, Ondrej; Liska, Jan

Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis

炎症和代谢因素对圆锥角膜风险的影响:因果推断分析

Hysi, Pirro G; Hardcastle, Alison J; Davidson, Alice E; Szczotka-Flynn, Loretta; Khawaja, Anthony P; Liskova, Petra; Iyengar, Sudha; Hammond, Chris J; Tuft, Stephen J

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

遗传和人口统计学因素决定 Fuchs 内皮角膜营养不良的风险和严重程度

Liu, Siyin; Sadan, Amanda N; Bhattacharyya, Nihar; Zarouchlioti, Christina; Szabo, Anita; Abreu Costa, Marcos; Hafford-Tear, Nathaniel J; Kladny, Anne-Marie S; Dudakova, Lubica; Ciosi, Marc; Moghul, Ismail; Wilkins, Mark R; Allan, Bruce; Skalicka, Pavlina; Hardcastle, Alison J; Pontikos, Nikolas; Bunce, Catey; Monckton, Darren G; Muthusamy, Kirithika; Liskova, Petra; Tuft, Stephen J; Davidson, Alice E

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights

角膜营养不良的基因型-表型相关性:分子遗传学和治疗见解的进展

Liskova, Petra; Skalicka, Pavlina; Dudakova, Lubica; Vincent, Andrea L

Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization

解读角膜-青光眼关联:来自孟德尔随机化的证据

de Vries, Victor A; Szabo, Anita; Vergroesen, Joëlle E; Liu, Siyin; van Garderen, Karin A; Muthusamy, Kirithika; Liskova, Petra; Dudakova, Lubica; Khawaja, Anthony P; Tuft, Stephen J; Klaver, Caroline C W; Davidson, Alice E; Ramdas, Wishal D

Proliferative verrucous leukoplakia is associated with aggressive periodontal pathogens: a comparative study with oral lichen planus and chronic periodontitis cases

增生性疣状白斑与侵袭性牙周病原体相关:一项与口腔扁平苔藓和慢性牙周炎病例的比较研究

Liska, Jan; Liskova, Veronika; Molnarova, Nikoleta; Topolcan, Ondrej; Posta, Petr; Hauer, Lukas

Testing a Susceptible Population Density Among Other Explanatory Factors of African Swine Fever Spread in Wild Boar Using the Russian Federation Data, 2007-2023

利用俄罗斯联邦数据(2007-2023年)检验易感种群密度等因素对非洲猪瘟在野猪中传播的影响

Zakharova, O I; Liskova, E A; Gladkova, N A; Razheva, I V; Iashin, I V; Blokhin, A A; Kolbasov, D V; Korennoy, F I

Environmental drivers of rabies in the Volga region of Russia: application of the maxent model

俄罗斯伏尔加河地区狂犬病的环境驱动因素:Maxent模型的应用

Zakharova, Olga I; Korennoy, Fedor I; Liskova, Elena A; Demidova, Tatiana N; Iashin, Ivan V; Blokhin, Andrei A