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

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

NDRG1基因中新型创始突变的鉴定和表征:完善保加利亚夏科-马里-图斯病4D型的遗传图谱

Atkinson, Derek; Chamova, Teodora; Candayan, Ayse; Kastreva, Kristina; Asenov, Ognian; Litvinenko, Ivan; Estrada-Cuzcano, Alejandro; De Vriendt, Els; Kukushev, Georgi; Tournev, Ivailo; Jordanova, Albena

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

WGS 揭示 WES 未发现的新型 BBS5 致病变异,可导致纤毛结构和功能缺陷

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Del

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

采用MLPA结合靶向NGS技术检测秘鲁疑似DMD/DMB患者肌营养不良蛋白基因突变。

Guevara-Fujita, María Luisa; Huaman-Dianderas, Francia; Obispo, Daisy; Sánchez, Rodrigo; Barrenechea, Victor; Rojas-Málaga, Diana; Estrada-Cuzcano, Alejandro; Trubnykova, Milana; Cornejo-Olivas, Mario; Marca, Victoria; Gallardo, Bertha; Dueñas-Roque, Milagros; Protzel, Ana; Castañeda, Carlos; Abarca, Hugo; Celis, Luis; La Serna-Infantes, Jorge; Fujita, Ricardo

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

新的 IQCE 变异证实了其在轴后多指畸形中的作用,并导致斑马鱼出现纤毛缺陷表型

Alejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Aline Schneider, Fouzia Studer, Francesca Mattioli, Kirsley Chennen, Sabine Sigaudy, Damien Plassard, Olivier Poch, Amélie Piton, Uwe Strahle, Jean Muller, Hélèn

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

隐性 Charcot-Marie-Tooth 神经病和轻度智力障碍中的 MCM3AP

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

ATP13A2/PARK9 基因的功能丧失突变导致复杂的遗传性痉挛性截瘫 (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

鞘氨醇-1-磷酸裂解酶缺乏症会导致夏科-马里-图斯神经病

Atkinson Derek, Nikodinovic Glumac Jelena, Asselbergh Bob, Ermanoska Biljana, Blocquel David, Steiner Regula, Estrada-Cuzcano Alejandro, Peeters Kristien, Ooms Tinne, De Vriendt Els, Yang Xiang-Lei, Hornemann Thorsten, Milic Rasic Vedrana, Jordanova Albena

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

编码纤毛蛋白的 C8orf37 基因突变与早期黄斑受累的常染色体隐性视网膜营养不良有关

Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J F Letteboer, Dorus A Mans, Ellen A W Blokland, Michael P Kwint, Sabine J Gijsen, Ramon A C van Huet, Rob W J Collin,

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

候选外显子组捕获确定 SDCCAG8 突变是视网膜肾纤毛病的原因

Edgar A Otto, Toby W Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B Patil, Shawn Levy, Amiya K Ghosh, Carlos A Murga-Zamalloa, Jeroen van Reeuwijk, Stef J F Letteboer, Liyun Sang, Rachel H Giles, Qin Liu, Karlien L M Coene, Alejandro Estrada-Cuzcano, Rob W J Collin, Heath

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12

通过对 2p12-q12 染色体上的四核苷酸重复序列进行数据挖掘,发现了青光眼基因座 GLC1B 的三个新的多态性微卫星标记。

Murga-Zamalloa, Carlos; Guevara-Fujita, Maria Luisa; Estrada-Cuzcano, Alejandro; Fujita, Ricardo