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

Transmission Ratio Distortion in Genetic Prion Diseases: Clarifying Methodological Considerations

遗传性朊病毒疾病的传播比率偏差:方法学考量澄清

Kortazar-Zubizarreta, Izaro; Manero-Azua, Africa; Eraña, Hasier; Castilla, Joaquín; Perez de Nanclares, Guiomar

A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this gene

对哺乳动物PRNP基因的全面系统发育分析表明,朊病毒错误折叠倾向对该基因的进化没有影响。

Sampedro-Torres-Quevedo, Cristina; Eraña, Hasier; Charco, Jorge M; Díaz-Domínguez, Carlos M; San-Juan-Ansoleaga, Maitena; Fernández-Muñoz, Eva; Gonçalves-Anjo, Nuno; Galarza-Ahumada, Josu; Cortazar, Ana R; Nespolo, Roberto F; Quintero-Galvis, Julian F; Manero-Azua, Africa; Polanco-Alonso, Diego; Gaite-Reguero, Adrián; Olalde, Íñigo; Marigorta, Urko M; Perez de Nanclares, Guiomar; Aransay, Ana M; Castilla, Joaquín

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50

遗传性朊病毒疾病的传播风险大于50

Kortazar-Zubizarreta, Izaro; Manero-Azua, Africa; Eraña, Hasier; Aguire, Urko; Castilla, Joaquín; Perez de Nanclares, Guiomar

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

GNAS 基因座的异源二体性也是 1B 型假性甲状旁腺功能减退症 (iPPSD3) 的病因之一。

Manero-Azua, Africa; Vado, Yerai; Gonzàlez Morlà, Judith; Mogas, Eduard; Pereda, Arrate; Perez de Nanclares, Guiomar

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)

选择最佳组织和技术来检测纤维性骨发育不良/麦克库恩-奥尔布赖特综合征(FD/MAS)中的嵌合现象

Vado, Yerai; Manero-Azua, Africa; Pereda, Arrate; Perez de Nanclares, Guiomar

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

多位点印记紊乱(MLID):临床和分子诊断临时联合声明

Mackay, Deborah J G; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M; Kalish, Jennifer M; Maas, Saskia M; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep

C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

C9ORF72 基因 GGGGCC 六核苷酸扩增:从肌萎缩侧索硬化症到额颞叶痴呆症,临床表现差异很大

Kortazar-Zubizarreta, Izaro; Manero-Azua, Africa; Afonso-Agüera, Juan; Perez de Nanclares, Guiomar

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

在甲基化特异性多重连接依赖性探针扩增(MS-MLPA)中意外发现:如何处理?

Manero-Azua, Africa; Pereda, Arrate; Llano-Rivas, Isabel; Garin, Intza; Perez de Nanclares, Guiomar