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

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？

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1274056
Manero-Azua, Africa; Pereda, Arrate; Llano-Rivas, Isabel; Garin, Intza; Perez de Nanclares, Guiomar
表观遗传
多发性硬化症
发表日期：2023
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Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

首次报道在一个疑似遗传性结直肠癌综合征的家族中发现致病性 BARD1 基因 8-11 号外显子杂合缺失：这不仅仅是偶然发现吗？

期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/s13053-023-00246-4
Carrera, Sergio; Rodríguez-Martínez, Ana Belén; Garin, Intza; Sarasola, Esther; Martínez, Cristina; Maortua, Hiart; Callejo, Almudena; Ruiz de Lobera, Abigail; Muñoz, Alberto; Miñambres, Nagore; Jiménez-Labaig, Pablo
BARD1
肿瘤
肠癌
肿瘤免疫
发表日期：2023
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COVID-19 In-Hospital Mortality and Use of Renin-Angiotensin System Blockers in Geriatrics Patients

新冠肺炎住院死亡率及老年患者使用肾素-血管紧张素系统阻滞剂的情况

期刊:Journal of the American Medical Directors Association
影响因子:3.8
doi:10.1016/j.jamda.2020.09.004
Genet, Bastien; Vidal, Jean-Sébastien; Cohen, Adrien; Boully, Clémence; Beunardeau, Maëlle; Marine Harlé, Louise; Gonçalves, Anna; Boudali, Yasmina; Hernandorena, Intza; Bailly, Henri; Lenoir, Hermine; Piccoli, Matthieu; Chahwakilian, Anne; Kermanach, Léna; de Jong, Laura; Duron, Emmanuelle; Girerd, Xavier; Hanon, Olivier
肺炎
新冠
微生物学
发表日期：2020
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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

排除假性甲状旁腺功能减退症后需要考虑的因素：特发性甲状旁腺功能减退症 (iPPSD) 和鉴别诊断

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-018-0530-z
Pereda, Arrate; Garin, Intza; Perez de Nanclares, Guiomar
发表日期：2018
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Blood pressure-lowering efficacy of indapamide SR/amlodipine combination in older patients with hypertension: A post hoc analysis of the NESTOR trial (Natrilix SR vs Enalapril in Hypertensive Type 2 Diabetics With Microalbuminuria)

吲达帕胺缓释片/氨氯地平联合用药对老年高血压患者的降压疗效：NESTOR试验（纳曲利克斯缓释片与依那普利治疗伴有微量白蛋白尿的2型高血压糖尿病患者）的事后分析

期刊:Journal of Clinical Hypertension
影响因子:2.5
doi:10.1111/jch.13053
Hanon, Olivier; Caillard, Laure; Chaussade, Edouard; Hernandorena, Intza; Boully, Clemence
高血压
NEST
心血管
代谢
糖尿病
发表日期：2017
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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

对伴有GNAS印记缺陷的假性甲状旁腺功能减退症患者进行全基因组DNA甲基化分析

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-016-0175-8
Rochtus, Anne; Martin-Trujillo, Alejandro; Izzi, Benedetta; Elli, Francesca; Garin, Intza; Linglart, Agnes; Mantovani, Giovanna; Perez de Nanclares, Guiomar; Thiele, Suzanne; Decallonne, Brigitte; Van Geet, Chris; Monk, David; Freson, Kathleen
表观遗传
DNA甲基化
发表日期：2016
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

欧洲关于非由基因点变异引起的假性甲状旁腺功能减退症分子诊断的指南（GNAS）：一项外部质量评估研究

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2014.127
Garin, Intza; Mantovani, Giovanna; Aguirre, Urko; Barlier, Anne; Brix, Bettina; Elli, Francesca M; Freson, Kathleen; Grybek, Virginie; Izzi, Benedetta; Linglart, Agnès; Perez de Nanclares, Guiomar; Silve, Caroline; Thiele, Susanne; Werner, Ralf
发表日期：2015
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Clinical utility gene card for: pseudohypoparathyroidism

临床实用基因卡：假性甲状旁腺功能减退症

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2012.211
Mantovani, Giovanna; Linglart, Agnes; Garin, Intza; Silve, Caroline; Elli, Francesca M; de Nanclares, Guiomar Perez
发表日期：2013
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Brachydactyly E: isolated or as a feature of a syndrome

短指畸形 E：孤立性或作为某种综合征的特征

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-8-141
Pereda, Arrate; Garin, Intza; Garcia-Barcina, Maria; Gener, Blanca; Beristain, Elena; Ibañez, Ane Miren; Perez de Nanclares, Guiomar
发表日期：2013
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

INS基因的隐性突变会通过降低胰岛素生物合成而导致新生儿糖尿病。

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.0910533107
Garin, Intza; Edghill, Emma L; Akerman, Ildem; Rubio-Cabezas, Oscar; Rica, Itxaso; Locke, Jonathan M; Maestro, Miguel Angel; Alshaikh, Adnan; Bundak, Ruveyde; del Castillo, Gabriel; Deeb, Asma; Deiss, Dorothee; Fernandez, Juan M; Godbole, Koumudi; Hussain, Khalid; O'Connell, Michele; Klupa, Thomasz; Kolouskova, Stanislava; Mohsin, Fauzia; Perlman, Kusiel; Sumnik, Zdenek; Rial, Jose M; Ugarte, Estibaliz; Vasanthi, Thiruvengadam; Johnstone, Karen; Flanagan, Sarah E; Martínez, Rosa; Castaño, Carlos; Patch, Ann-Marie; Fernández-Rebollo, Eduardo; Raile, Klemens; Morgan, Noel; Harries, Lorna W; Castaño, Luis; Ellard, Sian; Ferrer, Jorge; Perez de Nanclares, Guiomar; Hattersley, Andrew T
代谢
糖尿病
免疫/内分泌
发表日期：2010
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