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

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3

KCNV2相关性视网膜病变:基因型-表型相关性 - KCNV2研究组报告3

de Guimaraes, Thales A C; Georgiou, Michalis; Robson, Anthony G; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A; Pontikos, Nikolas; Vargas, Maurício E; Thiadens, Alberta A H J; Carvalho, Emanuel R de; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jiménez-Rolando, Belén; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreño; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M; Banin, Eyal; Pennesi, Mark E; Khan, Arif O; Wissinger, Bernd; Webster, Andrew R; Heon, Elise; Boon, Camiel J F; Zrenner, Eberhard; Michaelides, Michel

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

等位基因过载及其在巴德-比德尔综合征中的临床修饰作用

Perea-Romero, Irene; Solarat, Carlos; Blanco-Kelly, Fiona; Sanchez-Navarro, Iker; Bea-Mascato, Brais; Martin-Salazar, Eduardo; Lorda-Sanchez, Isabel; Swafiri, Saoud Tahsin; Avila-Fernandez, Almudena; Martin-Merida, Inmaculada; Trujillo-Tiebas, Maria Jose; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Minguez, Pablo; Corton, Marta; Valverde, Diana; Ayuso, Carmen

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

下一代测序技术在揭示1036个西班牙遗传性黄斑营养不良家族的遗传学特征中的作用

Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Martin-Merida, Inmaculada; Blanco-Kelly, Fiona; Swafiri, Saoud; Lorda-Sanchez, Isabel; Trujillo-Tiebas, Maria José; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Corton, Marta; Avila-Fernandez, Almudena; Ayuso, Carmen

Five years' experience of the clinical exome sequencing in a Spanish single center

西班牙某单一中心五年临床外显子组测序经验

Arteche-López, A; Ávila-Fernández, A; Riveiro Álvarez, R; Almoguera, B; Bustamante Aragonés, A; Martin-Merida, I; López Martínez, M A; Giménez Pardo, A; Vélez-Monsalve, C; Gallego Merlo, J; García Vara, I; Blanco-Kelly, F; Tahsin Swafiri, S; Lorda Sánchez, I; Trujillo Tiebas, M J; Ayuso, C

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

在遗传性视网膜营养不良症中,使用基于规则的算法对意义不明的变异进行重新分类并确定其优先级

Iancu, Ionut-Florin; Avila-Fernandez, Almudena; Arteche, Ana; Trujillo-Tiebas, Maria Jose; Riveiro-Alvarez, Rosa; Almoguera, Berta; Martin-Merida, Inmaculada; Del Pozo-Valero, Marta; Perea-Romero, Irene; Corton, Marta; Minguez, Pablo; Ayuso, Carmen

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1

KCNV2相关性视网膜病变:遗传学、电生理学和临床病程——KCNV2研究组报告1

Georgiou, Michalis; Robson, Anthony G; Fujinami, Kaoru; Leo, Shaun M; Vincent, Ajoy; Nasser, Fadi; Cabral De Guimarães, Thales Antônio; Khateb, Samer; Pontikos, Nikolas; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Vargas, Mauricio E; Thiadens, Alberta A H J; de Carvalho, Emanuel R; Nguyen, Xuan-Thanh-An; Arno, Gavin; Mahroo, Omar A; Martin-Merida, Maria Inmaculada; Jimenez-Rolando, Belen; Gordo, Gema; Carreño, Ester; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M; Wissinger, Bernd; Boon, Camiel J F; Banin, Eyal; Pennesi, Mark E; Khan, Arif O; Webster, Andrew R; Zrenner, Eberhart; Héon, Elise; Michaelides, Michel

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2

KCNV2相关性视网膜病变:详细的视网膜表型和结构终点——KCNV2研究组报告2

Georgiou, Michalis; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Vargas, Mauricio E; Thiadens, Alberta A H J; de Carvalho, Emanuel R; Nguyen, Xuan-Thanh-An; De Guimarães, Thales Antônio Cabral; Robson, Anthony G; Mahroo, Omar A; Pontikos, Nikolas; Arno, Gavin; Fujinami-Yokokawa, Yu; Leo, Shaun Michael; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Carreño, Ester; Garcia-Sandoval, Blanca; Ayuso, Carmen; Sharon, Dror; Kohl, Susanne; Huckfeldt, Rachel M; Boon, Camiel J F; Banin, Eyal; Pennesi, Mark E; Wissinger, Bernd; Webster, Andrew R; Héon, Elise; Khan, Arif O; Zrenner, Eberhart; Michaelides, Michel

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

西班牙6089例遗传性视网膜营养不良患者的遗传图谱及其治疗和流行病学意义

Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Pérez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

NGS和基于表型本体的方法提高了综合征性视网膜疾病的诊断率

I Perea-Romero ,F Blanco-Kelly ,I Sanchez-Navarro ,I Lorda-Sanchez ,S Tahsin-Swafiri ,A Avila-Fernandez ,I Martin-Merida ,M J Trujillo-Tiebas ,R Lopez-Rodriguez ,M Rodriguez de Alba ,I F Iancu ,R Romero ,M Quinodoz ,H Hakonarson ,Blanca Garcia-Sandova ,P Minguez ,M Corton ,C Rivolta ,C Ayuso

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

衍生人类 DOA iPSC 系 IISHDOi006-A,其 ACO2 基因发生突变:c.1999G>A;p.Glu667Lys

Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M Esther Gallardo