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

High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study

捷克共和国青少年起病型糖尿病患病率高:一项基于全国登记数据的25年研究

Dusatkova, Petra; Pavlikova, Marketa; Cermakova, Michaela; Vesela, Klara; Kolarova, Katerina; Elblova, Lenka; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort

现实生活中的努南综合征谱系疾病:单国多中心队列研究中基因定义的患者特征和对生长激素治疗的反应

Jirova, Barbora; Najdekova, Maria; Cerna, Jana; Dusatkova, Petra; Holotova, Kristina; Kolouskova, Stanislava; Kotvalova, Ivana; Magnova, Olga; Modrak, Martin; Novotna, Dana; Obermannova, Barbora; Pavlicek, Jan; Plachy, Lukas; Pomahacova, Renata; Pruhova, Stepanka; Rezabkova, Jitka; Strnadel, Jiri; Snajderova, Marta; Sumnik, Zdenek; Zapletalova, Jirina; Lebl, Jan

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Variant pubertal development in Prader-Willi syndrome: early and slow progression of pubarche with normal age at gonadarche

Prader-Willi综合征的青春期发育变异:阴毛发育早且缓慢,但性腺发育年龄正常

Kodytková, Aneta; Dušátková, Petra; Amaratunga, Shenali Anne; Koloušková, Stanislava; Obermannová, Barbora; Pomahačová, Renata; Průhová, Štěpánka; Šnajderová, Marta; Šumník, Zdeněk; Zapletalová, Jiřina; Semjonov, Valerij; Lebl, Jan

Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases

细胞遗传学异常是非家族性高个子儿童的主要遗传改变:与家族性病例的比较研究

Gregorova, Katerina; Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Martinkova, Julia; Drabova, Jana; Neuman, Vit; Kolouskova, Stanislava; Snajderova, Marta; Obermannova, Barbora; Lebl, Jan; Sumnik, Zdenek; Pruhova, Stepanka

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq

伊拉克库尔德斯坦地区近亲结婚人群中儿童糖尿病亚型:一项单中心队列研究

Amaratunga, Shenali A; Hussein Tayeb, Tara; Muhamad Sediq, Rozhan N; Hama Salih, Fareda K; Dusatkova, Petra; Wakeling, Matthew N; De Franco, Elisa; Pruhova, Stepanka; Lebl, Jan

Monogenic causes of familial short stature

家族性矮小症的单基因病因

Plachy, Lukas; Dusatkova, Petra; Amaratunga, Shenali Anne; Neuman, Vit; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

垂体激素联合缺乏症的病因:GNAO1作为一种新的候选基因

Plachy, Lukas; Dusatkova, Petra; Maratova, Klara; Amaratunga, Shenali Anne; Zemkova, Dana; Neuman, Vit; Kolouskova, Stanislava; Obermannova, Barbora; Snajderova, Marta; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka

Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary

SALL4基因的整合作用:从沙利度胺胚胎病到上肢、内脏器官、大脑中线和垂体的遗传缺陷

Kodytková, Aneta; Dušátková, Petra; Amaratunga, Shenali Anne; Plachý, Lukáš; Průhová, Štěpánka; Lebl, Jan

LGG-20. LANDSCAPE OF FGFR ALTERATIONS IN PEDIATRIC AND AYA GLIOMAS

LGG-20. 儿童和青少年胶质瘤中FGFR改变的概况

Plachy, Lukas; Amaratunga, Shenali Anne; Dusatkova, Petra; Maratova, Klara; Neuman, Vit; Petruzelkova, Lenka; Zemkova, Dana; Obermannova, Barbora; Snajderova, Marta; Kolouskova, Stanislava; Sumnik, Zdenek; Lebl, Jan; Pruhova, Stepanka; Ramos, Susana Isabel; Chang, Wan Sze; Zaslavsky, Elena; Tsankova, Nadejda; Jacobs, Susanne D; Johnson, Margaret O; Miller, Elizabeth S; Patel, Mallika; Affronti, Mary L; Lazow, Margot; Thomas, Diana; Cottrell, Catherine; Kobolt, Daniel; Ramadesikan, Swetha; Salloum, Ralph; Shaikhouni, Ammar; Mardis, Elaine; Jones, Jeremy; Leonard, Jeffrey; Boué, Daniel; Fouladi, Maryam; Schieffer, Kathleen; Picca, Alberto; Stefano, Anna Luisa Di; Savatovsky, Julien; Ducray, Francois; Chinot, Olivier; Moyal, Elisabeth Cohen-Jonathan; Augereau, Paule; Schmitt, Yohann; Lerond, Julie; Rousseaux, Nabila; Fardeau, Christine; Mokhtari, Karima; Bielle, Franck; Meyronet, David; Iavarone, Antonio; Sanson, Marc; Nobre, Liana; Sait, Sameer Farouk; Bennet, Julie; Larsen, Alexandra Gianyini; Ho, I-Chen; Gianno, Francesca; Lin, Andrew; Mellinghoff, Ingo; Miller, Alexandra; Siddaway, Robert; Karijannis, Matthias; Tabori, Uri; Bale, Tejus; Hawkins, Cynthia