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

The Presence of Risk and Protective HLA-DQ Haplotype Combinations and PLA2R1 Risk SNP in Hungarian Patients with Membranous Nephropathy

匈牙利膜性肾病患者中风险和保护性HLA-DQ单倍型组合以及PLA2R1风险SNP的存在情况

Bajcsi, Dóra; Maróti, Zoltán; Endreffy, Emőke; Légrády, Péter; Ábrahám, György; Iványi, Béla

Transancestral mapping and genetic load in systemic lupus erythematosus

跨祖先定位和系统性红斑狼疮的遗传负荷

Langefeld, Carl D; Ainsworth, Hannah C; Cunninghame Graham, Deborah S; Kelly, Jennifer A; Comeau, Mary E; Marion, Miranda C; Howard, Timothy D; Ramos, Paula S; Croker, Jennifer A; Morris, David L; Sandling, Johanna K; Almlöf, Jonas Carlsson; Acevedo-Vásquez, Eduardo M; Alarcón, Graciela S; Babini, Alejandra M; Baca, Vicente; Bengtsson, Anders A; Berbotto, Guillermo A; Bijl, Marc; Brown, Elizabeth E; Brunner, Hermine I; Cardiel, Mario H; Catoggio, Luis; Cervera, Ricard; Cucho-Venegas, Jorge M; Dahlqvist, Solbritt Rantapää; D'Alfonso, Sandra; Da Silva, Berta Martins; de la Rúa Figueroa, Iñigo; Doria, Andrea; Edberg, Jeffrey C; Endreffy, Emőke; Esquivel-Valerio, Jorge A; Fortin, Paul R; Freedman, Barry I; Frostegård, Johan; García, Mercedes A; de la Torre, Ignacio García; Gilkeson, Gary S; Gladman, Dafna D; Gunnarsson, Iva; Guthridge, Joel M; Huggins, Jennifer L; James, Judith A; Kallenberg, Cees G M; Kamen, Diane L; Karp, David R; Kaufman, Kenneth M; Kottyan, Leah C; Kovács, László; Laustrup, Helle; Lauwerys, Bernard R; Li, Quan-Zhen; Maradiaga-Ceceña, Marco A; Martín, Javier; McCune, Joseph M; McWilliams, David R; Merrill, Joan T; Miranda, Pedro; Moctezuma, José F; Nath, Swapan K; Niewold, Timothy B; Orozco, Lorena; Ortego-Centeno, Norberto; Petri, Michelle; Pineau, Christian A; Pons-Estel, Bernardo A; Pope, Janet; Raj, Prithvi; Ramsey-Goldman, Rosalind; Reveille, John D; Russell, Laurie P; Sabio, José M; Aguilar-Salinas, Carlos A; Scherbarth, Hugo R; Scorza, Raffaella; Seldin, Michael F; Sjöwall, Christopher; Svenungsson, Elisabet; Thompson, Susan D; Toloza, Sergio M A; Truedsson, Lennart; Tusié-Luna, Teresa; Vasconcelos, Carlos; Vilá, Luis M; Wallace, Daniel J; Weisman, Michael H; Wither, Joan E; Bhangale, Tushar; Oksenberg, Jorge R; Rioux, John D; Gregersen, Peter K; Syvänen, Ann-Christine; Rönnblom, Lars; Criswell, Lindsey A; Jacob, Chaim O; Sivils, Kathy L; Tsao, Betty P; Schanberg, Laura E; Behrens, Timothy W; Silverman, Earl D; Alarcón-Riquelme, Marta E; Kimberly, Robert P; Harley, John B; Wakeland, Edward K; Graham, Robert R; Gaffney, Patrick M; Vyse, Timothy J

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

早期发现由新生父源性15q单亲二体性突变引起的Angelman综合征,并回顾类似病例

Horváth, Emese; Horváth, Zsuzsanna; Isaszegi, Dóra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szabó, János; Sztriha, László; Széll, Márta; Endreffy, Emőke

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

精细定位和条件分析鉴定出自身免疫易感基因BLK中的一种新突变,该突变导致BLK蛋白半衰期缩短。

Delgado-Vega, Angélica M; Dozmorov, Mikhail G; Quirós, Manuel Bernal; Wu, Ying-Yu; Martínez-García, Belén; Kozyrev, Sergey V; Frostegård, Johan; Truedsson, Lennart; de Ramón, Enrique; González-Escribano, María F; Ortego-Centeno, Norberto; Pons-Estel, Bernardo A; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Witte, Torsten; Lauwerys, Bernard R; Endreffy, Emoke; Kovács, László; Vasconcelos, Carlos; da Silva, Berta Martins; Wren, Jonathan D; Martin, Javier; Castillejo-López, Casimiro; Alarcón-Riquelme, Marta E

Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene

miRNA-146a通过降低基因表达与欧洲人系统性红斑狼疮存在遗传关联

Löfgren, S E; Frostegård, J; Truedsson, L; Pons-Estel, B A; D'Alfonso, S; Witte, T; Lauwerys, B R; Endreffy, E; Kovács, L; Vasconcelos, C; Martins da Silva, B; Kozyrev, S V; Alarcón-Riquelme, M E

Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study

亚表型与系统性红斑狼疮易感基因位点关联的进一步证据:一项仅纳入欧洲病例的研究

Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Ordi-Ros, Josep; Balada, Eva; Bijl, Marc; Papasteriades, Chryssa; Carreira, Patricia; Skopouli, Fotini N; Witte, Torsten; Endreffy, Emöke; Marchini, Maurizio; Migliaresi, Sergio; Sebastiani, Gian Domenico; Santos, Maria Jose; Suarez, Ana; Blanco, Francisco J; Barizzone, Nadia; Pullmann, Rudolf; Ruzickova, Sarka; Lauwerys, Bernard R; Gomez-Reino, Juan J; Gonzalez, Antonio

Parallel testing of several genes (panel-testing) in patients with ectodermal dysplasia using next-generation sequencing

利用新一代测序技术对患有外胚层发育不良的患者进行多个基因的平行检测(基因组检测)。

Belfquih, Hatim; El Mostarchid, Brahim; Oukabli, Mohamed; Akhaddar, Ali; Boucetta, Mohammed; Leeb, Tosso; Guazzarotti, L; Tadini, G; Mancini, GE; Giglio, S; Sani, I; Nannini, P; Bosoni, M; Bottero, A; Caimi, A; Morelli, M; Zuccotti, GV; Montanari, M; Callea, M; Battelli, F; Corinaldesi, G; Sapigni, L; Marchetti, C; Piana, G; Fedele, G; Norderyd, J; Reinert, Siegmar; Callea, M; Yavuz, I; Deroma, L; Montanari, M; Clarich, G; Maglione, M; Albertini, E; Garavelli, L; Bergendal, Birgitta; Kovács, G; Endreffy, E; Maróti, Z; Stanford, Clark M; Toupenay, S; de la Dure, M; Razanamihaja, N; Berdal, A; Boy-Lefèvre, M-L; Gal, Andreas; Bücher, K; Kurtz, KS; Callea, M; Maglione, M; Yavuz, I; Deroma, L; Willoughby, CE; Tadini, G; Divekar, D; Huttner, KM; Grange, DK; Klein, OD; Schneider, H; Thesleff, Irma; Schneider, Holm; Callea, M; Grecchi, F; Carinci, F; Mancini, EG; Fete, Timothy J; Huttner, Kenneth; Dietz, J; Kaercher, T; Schneider, AT; Zimmermann, T; Huttner, K; Johnson, R; Schneider, H; Neukam, Friedrich Wilhelm; Bohring, Axel; Gomez, Karla Padilla; Blum, Elzbieta; Itin, Peter H; Hammersen, Johanna E; McAllister, Anita; Kaercher, Thomas; Weber, Heiner; Gaide, Olivier; Gabriel, HD; Decker, E; Gencik, M

Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study

近期发现的系统性红斑狼疮遗传关联的重复验证:一项病例对照研究

Suarez-Gestal, Marian; Calaza, Manuel; Endreffy, Emöke; Pullmann, Rudolf; Ordi-Ros, Josep; Sebastiani, Gian Domenico; Ruzickova, Sarka; Jose Santos, Maria; Papasteriades, Chryssa; Marchini, Maurizio; Skopouli, Fotini N; Suarez, Ana; Blanco, Francisco J; D'Alfonso, Sandra; Bijl, Marc; Carreira, Patricia; Witte, Torsten; Migliaresi, Sergio; Gomez-Reino, Juan J; Gonzalez, Antonio

One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders

自闭症谱系障碍儿童的单碳代谢紊乱和MTHFR基因C677T多态性

Paşca, Sergiu P; Dronca, Eleonora; Kaucsár, Tamás; Craciun, Elena C; Endreffy, Emõke; Ferencz, Beatrix K; Iftene, Felicia; Benga, Ileana; Cornean, Rodica; Banerjee, Ruma; Dronca, Maria

HLA class II allele polymorphism in Hungarian patients with systemic lupus erythematosus

匈牙利系统性红斑狼疮患者的 HLA II 类等位基因多态性

E Endreffy, A Kovács, L Kovács, G Pokorny