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

Editorial: Cardiovascular calcification: disease mechanisms, clinical phenotypes and therapeutic strategies

社论:心血管钙化:疾病机制、临床表型和治疗策略

Nollet, Lukas; Leftheriotis, Georges; Vanakker, Olivier M

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Hexasodium Fytate (SNF472 or CSL525) Inhibits Ectopic Calcification in Various Pseudoxanthoma Elasticum and Calcinosis Cutis Animal Models

六钠盐(SNF472 或 CSL525)可抑制多种假性黄色瘤和皮肤钙质沉着症动物模型中的异位钙化

Ferrer, Miguel D; Pérez-Ferrer, Maria Del Mar; Blasco, Marc; Jacobs, Ida Joely; Li, Qiaoli; Vanakker, Olivier M; Dangreau, Lisa; López, Andrea; Malagraba, Gianluca; Bassissi, Firas; Perelló, Joan; Salcedo, Carolina

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

TFAP2E与中枢神经系统、口面部和颌面部畸形有关。

Kalanithy, Jeshurun C; Mingardo, Enrico; Stegmann, Jil D; Dhakar, Ramgopal; Dakal, Tikam Chand; Rosenfeld, Jill A; Tan, Wen-Hann; Coury, Stephanie A; Woerner, Audrey C; Sebastian, Jessica; Levy, Paul A; Fleming, Leah R; Waffenschmidt, Lea; Lindenberg, Tobias T; Yilmaz, Öznur; Channab, Khadija; Babra, Bimaljeet K; Christ, Andrea; Eiberger, Britta; Hölzel, Selina; Vidic, Clara; Häberlein, Felix; Ishorst, Nina; Rodriguez-Gatica, Juan E; Pezeshkpoor, Behnaz; Kupczyk, Patrick A; Vanakker, Olivier M; Loddo, Sara; Novelli, Antonio; Dentici, Maria L; Becker, Albert; Thiele, Holger; Posey, Jennifer E; Lupski, James R; Hilger, Alina C; Reutter, Heiko M; Merz, Waltraut M; Dworschak, Gabriel C; Odermatt, Benjamin

ABCC6-Related Left Ventricular Papillary Muscle Calcification

ABCC6相关性左心室乳头肌钙化

Nollet, Lukas; Pauwels, Ruben; De Zaeytijd, Julie; Strubbe, Beatrijs; Dendooven, Amélie; Vanakker, Olivier M

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

通过长读长测序和光学基因组图谱对未解析的结构变异进行全面表征

De Clercq, Griet; Vantomme, Lies; Dewaele, Barbara; Callewaert, Bert; Vanakker, Olivier; Janssens, Sandra; Loeys, Bart; Strazisar, Mojca; De Coster, Wouter; Vermeesch, Joris Robert; Dheedene, Annelies; Menten, Björn

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

性腺嵌合体作为隐性遗传性皮肤病的一种罕见遗传模式:两例假性黄色瘤病例报告及文献综述

Dangreau, Lisa; Hosen, Mohammad J; De Zaeytijd, Julie; Leroy, Bart P; Coucke, Paul J; Vanakker, Olivier M

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

TDP-43 C 端移码变异体具有显著的聚集倾向,可导致边缘空泡肌病,但不会导致肌萎缩侧索硬化症/额颞叶痴呆。

Ervilha Pereira, Pedro; Schuermans, Nika; Meylemans, Antoon; LeBlanc, Pontus; Versluys, Lauren; Copley, Katie E; Rubien, Jack D; Altheimer, Christopher; Peetermans, Myra; Debackere, Elke; Vanakker, Olivier; Janssens, Sandra; Baets, Jonathan; Verhoeven, Kristof; Lammens, Martin; Symoens, Sofie; De Paepe, Boel; Barmada, Sami J; Shorter, James; De Bleecker, Jan L; Bogaert, Elke; Dermaut, Bart

Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases

斑马鱼模型中椎骨过早矿化在遗传性多系统疾病机制和药物研究中的意义

Van Wynsberghe, Judith; Vanakker, Olivier M

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome

临床表现多样的综合征疾病中的甲基化特征:两名患有 Tatton-Brown-Rahman 综合征的成年人携带家族性 DNMT3A 变异

Kumps, Candy; D'haenens, Erika; Kerkhof, Jennifer; McConkey, Haley; Alders, Marielle; Sadikovic, Bekim; Vanakker, Olivier M