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

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

Generalized dystonia without Parkinsonism in an LRRK2 carrier

LRRK2基因携带者出现无帕金森症状的全身性肌张力障碍

Díaz-Feliz, Lola; Feliz-Feliz, Cici; Del Val, Javier; Ávila-Fernández, Almudena; Lorda-Sanchez, Isabel; García-Ruiz, Pedro J

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

比较aCGH和全基因组测序在不同神经发育障碍中的诊断率

Martinez-Granero, Francisco; Blanco-Kelly, Fiona; Sanchez-Jimeno, Carolina; Avila-Fernandez, Almudena; Arteche, Ana; Bustamante-Aragones, Ana; Rodilla, Cristina; Rodríguez-Pinilla, Elvira; Riveiro-Alvarez, Rosa; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria Jose; Ayuso, Carmen; Rodríguez de Alba, Marta; Lorda-Sanchez, Isabel; Almoguera, Berta

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

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Schuurs-Hoeijmakers 综合征(PACS1 神经发育障碍):七名新患者和综述

Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Palomares-Bralo, María; Pacio-Míguez, Marta; Gómez, Beatriz; Arias, Pedro; Alcochea, Alba; Carrión, Juan; Arias, Patricia; Almoguera, Berta; López-Grondona, Fermina; Lorda-Sanchez, Isabel; Galán-Gómez, Enrique; Valenzuela, Irene; Méndez Perez, María Pilar; Cuscó, Ivón; Barros, Francisco; Pié, Juan; Ramos, Sergio; Ramos, Feliciano J; Kuechler, Alma; Tizzano, Eduardo; Ayuso, Carmen; Kaiser, Frank J; Pérez-Jurado, Luis A; Carracedo, Ángel; The ENoD-Ciberer Consortium; The Side Consortium; Lapunzina, Pablo

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis

扩展约翰逊-布利扎德综合征的突变谱:通过多重连接依赖性探针扩增分析鉴定UBR1基因中的整个外显子缺失和重复

Sukalo, Maja; Schäflein, Eva; Schanze, Ina; Everman, David B; Rezaei, Nima; Argente, Jesús; Lorda-Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

五年无创母体血胎儿性别鉴定经验概述

Perlado-Marina, Sara; Bustamante-Aragones, Ana; Horcajada, Laura; Trujillo-Tiebas, Maria Jose; Lorda-Sanchez, Isabel; Ruiz Ramos, Marta; Plaza, Javier; Rodriguez de Alba, Marta

Does Bardet-Biedl syndrome have a characteristic face?

巴德-比德尔综合征是否有特征性面容?

Lorda-Sanchez, I; Ayuso, C; Sanz, R; Ibañez, A