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

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

磺脲类药物长期治疗KCNJ11基因突变所致新生儿糖尿病患者的有效性和安全性:一项国际队列研究

Bowman, Pamela; Sulen, Åsta; Barbetti, Fabrizio; Beltrand, Jacques; Svalastoga, Pernille; Codner, Ethel; Tessmann, Ellen H; Juliusson, Petur B; Skrivarhaug, Torild; Pearson, Ewan R; Flanagan, Sarah E; Babiker, Tarig; Thomas, Nicholas J; Shepherd, Maggie H; Ellard, Sian; Klimes, Iwar; Szopa, Magdalena; Polak, Michel; Iafusco, Dario; Hattersley, Andrew T; Njølstad, Pål R

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

对早发性重度肥胖儿童和青少年单心基因1的遗传分析

Stanikova, Daniela; Buzga, Marek; Krumpolec, Patrik; Skopkova, Martina; Surova, Martina; Ukropcova, Barbara; Ticha, Lubica; Petrasova, Miroslava; Gabcova, Dominika; Huckova, Miroslava; Piskorova, Lucie; Bozensky, Jan; Mokan, Marian; Ukropec, Jozef; Zavacka, Ivona; Klimes, Iwar; Stanik, Juraj; Gasperikova, Daniela

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

MARVELD2 的分子遗传学和巴基斯坦和斯洛伐克家族中 DFNB49 听力损失的临床表型

Nayak Gowri, Varga Lukas, Trincot Claire, Shahzad Mohsin, Friedman Penelope L, Klimes Iwar, Greinwald John H Jr, Riazuddin S Amer, Masindova Ivica, Profant Milan, Khan Shaheen N, Friedman Thomas B, Ahmed Zubair M, Gasperikova Daniela, Riazuddin Sheikh, Riazuddin Saima

Mutations in HNF1A result in marked alterations of plasma glycan profile

HNF1A基因突变会导致血浆聚糖谱发生显著改变。

Thanabalasingham, Gaya; Huffman, Jennifer E; Kattla, Jayesh J; Novokmet, Mislav; Rudan, Igor; Gloyn, Anna L; Hayward, Caroline; Adamczyk, Barbara; Reynolds, Rebecca M; Muzinic, Ana; Hassanali, Neelam; Pucic, Maja; Bennett, Amanda J; Essafi, Abdelkader; Polasek, Ozren; Mughal, Saima A; Redzic, Irma; Primorac, Dragan; Zgaga, Lina; Kolcic, Ivana; Hansen, Torben; Gasperikova, Daniela; Tjora, Erling; Strachan, Mark W J; Nielsen, Trine; Stanik, Juraj; Klimes, Iwar; Pedersen, Oluf B; Njølstad, Pål R; Wild, Sarah H; Gyllensten, Ulf; Gornik, Olga; Wilson, James F; Hastie, Nicholas D; Campbell, Harry; McCarthy, Mark I; Rudd, Pauline M; Owen, Katharine R; Lauc, Gordan; Wright, Alan F

Transcriptional regulation of adipocyte formation by the liver receptor homologue 1 (Lrh1)-Small hetero-dimerization partner (Shp) network

肝脏受体同源物 1 (Lrh1)-小异二聚体伴侣 (Shp) 网络对脂肪细胞形成的转录调控

Mrosek, Nadja; Meissburger, Bettina; Mataki, Chikage; Roeder, Eva; Ukropec, Jozef; Klimes, Iwar; Gasperikova, Daniela; Nawroth, Peter-Paul; Rudofsky, Gottfried; Auwerx, Johan; Schoonjans, Kristina; Wolfrum, Christian

Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity

德国东部索布人的遗传变异与更广泛的欧洲遗传多样性之间的关系

Veeramah, Krishna R; Tönjes, Anke; Kovacs, Peter; Gross, Arnd; Wegmann, Daniel; Geary, Patrick; Gasperikova, Daniela; Klimes, Iwar; Scholz, Markus; Novembre, John; Stumvoll, Michael

Multiple adverse thyroid and metabolic health signs in the population from the area heavily polluted by organochlorine cocktail (PCB, DDE, HCB, dioxin)

受有机氯混合物(多氯联苯、滴滴涕、六氯苯、二恶英)严重污染地区的居民出现多种甲状腺和代谢健康不良症状。

Langer, Pavel; Kocan, Anton; Tajtáková, Mária; Susienková, Katarína; Rádiková, Zofia; Koska, Juraj; Ksinantová, Lucia; Imrich, Richard; Hucková, Miloslava; Drobná, Beáta; Gasperíková, Daniela; Trnovec, Tomás; Klimes, Iwar

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes

一例患有短暂性新生儿糖尿病的患者,其KCNJ11基因新发现的错义变异R365H与父系遗传的6q24重复序列同时存在。

Staník, Juraj; Lethby, Mark; Flanagan, Sarah E; Gasperíková, Daniela; Milosovicová, Beata; Lever, Margaret; Bullman, Hilary; Zubcevic, Lejla; Hattersley, Andrew T; Ellard, Sian; Ashcroft, Frances M; Klimes, Iwar

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

斯洛伐克永久性新生儿糖尿病的患病率以及KCNJ11和ABCC8基因突变携带者成功用磺脲类药物替代胰岛素治疗的情况

Stanik, Juraj; Gasperikova, Daniela; Paskova, Magdalena; Barak, Lubomir; Javorkova, Jana; Jancova, Emilia; Ciljakova, Miriam; Hlava, Peter; Michalek, Jozef; Flanagan, Sarah E; Pearson, Ewan; Hattersley, Andrew T; Ellard, Sian; Klimes, Iwar