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

Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing MLH1 copy number variants

筛选生物样本库SNP芯片基因分型数据以检测林奇综合征易感MLH1拷贝数变异

Ala-Kulju, Kimmo; Carpén, Olli; Lappalainen, Maarit; Pehrsson, Minja

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

RNF186 中的蛋白质截短变体 R179X 可预防溃疡性结肠炎

Rivas Manuel A, Graham Daniel, Sulem Patrick, Stevens Christine, Desch A Nicole, Goyette Philippe, Gudbjartsson Daniel, Jonsdottir Ingileif, Thorsteinsdottir Unnur, Degenhardt Frauke, Mucha Sören, Kurki Mitja I, Li Dalin, D'Amato Mauro, Annese Vito, Vermeire Severine, Weersma Rinse K, Halfvarson Jonas, Paavola-Sakki Paulina, Lappalainen Maarit, Lek Monkol, Cummings Beryl, Tukiainen Taru, Haritunians Talin, Halme Leena, Koskinen Lotta L E, Ananthakrishnan Ashwin N, Luo Yang, Heap Graham A, Visschedijk Marijn C, MacArthur Daniel G, Neale Benjamin M, Ahmad Tariq, Anderson Carl A, Brant Steven R, Duerr Richard H, Silverberg Mark S, Cho Judy H, Palotie Aarno, Saavalainen Päivi, Kontula Kimmo, Färkkilä Martti, McGovern Dermot P B, Franke Andre, Stefansson Kari, Rioux John D, Xavier Ramnik J, Daly Mark J, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar J P, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen J V, Milgrom R, Proctor D, Regueiro M, Schumm P L, Sharma Y, Stempak J M, Targan S R, Wang M H

Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus

一项包含三项重复研究的全基因组扫描结果表明,UST基因位点上的一个易感变异与职业倦怠有关。

Sulkava, Sonja; Ollila, Hanna M; Ahola, Kirsi; Partonen, Timo; Viitasalo, Katriina; Kettunen, Johannes; Lappalainen, Maarit; Kivimäki, Mika; Vahtera, Jussi; Lindström, Jaana; Härmä, Mikko; Puttonen, Sampsa; Salomaa, Veikko; Paunio, Tiina

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

瑞典、芬兰、匈牙利和意大利人群中的IL23R:与炎症性肠病和银屑病的关联,以及与乳糜泻的联系

Einarsdottir, Elisabet; Koskinen, Lotta L E; Dukes, Emma; Kainu, Kati; Suomela, Sari; Lappalainen, Maarit; Ziberna, Fabiana; Korponay-Szabo, Ilma R; Kurppa, Kalle; Kaukinen, Katri; Adány, Róza; Pocsai, Zsuzsa; Széles, György; Färkkilä, Martti; Turunen, Ulla; Halme, Leena; Paavola-Sakki, Paulina; Not, Tarcisio; Vatta, Serena; Ventura, Alessandro; Löfberg, Robert; Torkvist, Leif; Bresso, Francesca; Halfvarson, Jonas; Mäki, Markku; Kontula, Kimmo; Saarialho-Kere, Ulpu; Kere, Juha; D'Amato, Mauro; Saavalainen, Päivi