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

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

与单等位基因ALG8和ALG9致病变异相关的囊性表型的特征

Jawaid, Tabinda; Elbarougy, Doaa E; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R; Olinger, Eric; Yang, Hana; McDonnell, Shannon K; Bublitz, Joshua T; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D; Schauer, Rachel S; Baker, Tracy A; Gregory, Adriana V; Orr, Sarah E; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K; Kline, Timothy L; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D; Steinman, Theodore I; Peters, Dorien J M; Gitomer, Berenice Y; Watnick, Terry J; Coto, Eliecer; Chebib, Fouad T; Hogan, Marie C; Olson, Janet E; Larson, Nicholas B; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E; Sayer, John A; Cornec-Le Gall, Emilie; Harris, Peter C

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Clinical and genetic characteristics of patients diagnosed with atypical hemolytic uremic syndrome (aHUS): epidemiological data from the Belgian cohort of the Global aHUS Registry

非典型溶血性尿毒综合征(aHUS)患者的临床和遗传特征:来自全球aHUS注册研究比利时队列的流行病学数据

Massart, Annick; Weekers, Laurent; Claes, Kathleen J; Van Meerhaeghe, Tess; Snauwaert, Evelien; Mekahli, Djalila; Goffin, Eric; Collard, Laure; Godefroid, Nathalie; Adams, Brigitte; Van Cauwelaert, Stefan; Van Hoeck, Koenraad; Block, Sebastien; Al-Dakkak, Imad; Dahan, Karin; Stordeur, Patrick; Vande Walle, Johan

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

采用基因型优先的方法识别CDH1种系变异与癌症表型之间的关联:欧洲遗传肿瘤风险综合征参考网络的多中心研究

Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz, Stefan; Bajalica-Lagercrantz, Svetlana; Balmaña, Judith; Blatnik, Ana; Benusiglio, Patrick R; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capellá, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignés, Camille; Domínguez-Garrido, Elena; Egas, Conceição; Evans, D Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C; Coulet, Florence; Garcia-Barcina, María; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski-Feder, Elke; Hüneburg, Robert; Krajc, Mateja; Lagerstedt-Robinson, Kristina; Lázaro, Conxi; Ligtenberg, Marjolijn J L; Martínez-Bouzas, Cristina; Merino, Sonia; Michils, Geneviève; Novaković, Srdjan; Patiño-García, Ana; Ranzani, Guglielmina Nadia; Schröck, Evelin; Silva, Inês; Silveira, Catarina; Soto, José L; Spier, Isabel; Steinke-Lange, Verena; Tedaldi, Gianluca; Tejada, María-Isabel; Woodward, Emma R; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla

Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies

继发性血栓性微血管病的流行病学、预后和补体基因变异

Werion, Alexis; Storms, Pauline; Zizi, Ysaline; Beguin, Claire; Bernards, Jelle; Cambier, Jean-François; Dahan, Karin; Dierickx, Daan; Godefroid, Nathalie; Hilbert, Pascale; Lambert, Catherine; Levtchenko, Elena; Meyskens, Thomas; Poiré, Xavier; van den Heuvel, Lambert; Claes, Kathleen J; Morelle, Johann

Retraction Note: Hypermethylation of the 5' CpG island of the p14(ARF) flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression

撤稿声明:人类结直肠癌中p14(ARF)基因1β外显子侧翼5' CpG岛的高甲基化,表现为p53过表达的局限性模式,并伴有MDM2表达增加。

Nyiraneza, Christine; Sempoux, Christine; Detry, Roger; Kartheuser, Alex; Dahan, Karin

Lessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?

对临床肾脏科医生的启示:鲁马西兰会成为原发性高草酸尿症 1 型患者未来治疗的基石吗?

Gillion, Valentine; Dahan, Karin; Scohy, Anaïs; Devresse, Arnaud; Godefroid, Nathalie

Nephronophthisis Is an Important Differential Diagnosis of Nonspecific Interstitial Nephritis in Adults

肾痨是成人非特异性间质性肾炎的重要鉴别诊断之一。

Gillion, Valentine; Dahan, Karin; Jadoul, Michel; Demoulin, Nathalie

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

基因检测在慢性肾脏病诊断中的应用:临床实践建议

Knoers, Nine; Antignac, Corinne; Bergmann, Carsten; Dahan, Karin; Giglio, Sabrina; Heidet, Laurence; Lipska-Ziętkiewicz, Beata S; Noris, Marina; Remuzzi, Giuseppe; Vargas-Poussou, Rosa; Schaefer, Franz