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Almudena Ávila-Fernández

ciber - centro de investigacion biomedica en red
H指数:32
被引数:2,620

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Clinical and molecular features of PRCD-associated retinopathy

PRCD相关视网膜病变的临床和分子特征

Acta Ophthalmologica
IF2.8
2026-09-200
OAAI
Vasil Kostin; Karolina Kaminska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila-Fernández; Béatrice Bocquet; Luisa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez-Caballero Palomeque; Bohdan Kousal; Petra Liskova; Inmaculada Martín-Mérida; María Juliana Ballesta-Martínez; Daan Panneman; Susanne Roosing; Isabelle Meunier; José M. Millán; Monika Pankievič; Irene Perea-Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

小规模肾脏病遗传检测面板的诊断收益率与临床影响：一项多中心、回顾性欧洲研究

Clinical Genetics
IF2.3
2025-06-180
OA
Silvia Giovanella; Antonio Miguel Poyatos-Andújar; Maria Mar Aguila Garcia; Almudena Avila-Fernandez; Ana Bustamante-Aragonés; Carmen Ayuso; Antonio Percesepe; Davide Martorana; Maria Ferri; Alessandra Terracciano; Laura Massella; Johanna Chester; Francesca Testa; Giulia Ligabue; Marco Ferrarini; Dino Gibertoni; Gaetano Alfano; Elena Tenedini; Lucia Artuso; Marco Marino; Olga Calabrese; Enrico Tagliafico; Riccardo Magistroni
KCNV2-associated retinopathy: genotype-phenotype correlations-KCNV2 study group report 3

KCNV2-associated视网膜病变: 基因型-表型correlations-KCNV2研究组报告3

BRITISH JOURNAL OF OPHTHALMOLOGY
IF3.5
2023-10-181
OAAI
de Guimaraes, Thales A. C.; Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Mahroo, Omar A.; Pontikos, Nikolas; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Nguyen, Xuan-Than-An; Arno, Gavin; Fujinami-Yokokawa, Yu; Liu, Xiao; Tsunoda, Kazushige; Hayashi, Takaaki; Jimenez-Rolando, Belen; Martin-Merida, Maria Inmaculada; Avila-Fernandez, Almudena; Salas, Ester Carreno; 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
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2023-10-012
OAAI
Rodilla, Cristina; Martin-Merida, Inmaculada; Blanco-Kelly, Fiona; Trujillo-Tiebas, Maria Jose; Avila-Fernandez, Almudena; Riveiro-Alvarez, Rosa; Del Pozo-Valero, Marta; Perea-Romero, Irene; Swafiri, Saoud Tahsin; Zurita, Olga; Villaverde, Cristina; Lopez, Miguel Angel; Romero, Raquel; Iancu, Ionut Florin; Nunez-Moreno, Gonzalo; Jimenez-Rolando, Belen; Martin-Gutierrez, Maria Pilar; Carreno, Ester; Minguez, Pablo; Garcia-Sandoval, Blanca; Ayuso, Carmen; Corton, Marta
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients

RPE65-related视网膜营养不良: 45例受影响患者的突变和表型谱

EXPERIMENTAL EYE RESEARCH
IF2.7
2021-11-0114
OAAI
Lopez-Rodriguez, Rosario; Lantero, Esther; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Martin Merida, Inmaculada; Del Pozo-Valero, Marta; Perea-Romero, Irene; Zurita, Olga; Jimenez-Rolando, Belen; Tahsin Swafiri, Saoud; Riveiro-Alvarez, Rosa; Jose Trujillo-Tiebas, Maria; Carreno Salas, Ester; Garcia-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2021-10-0115
OAAI
Georgiou, Michalis; Fujinami, Kaoru; Vincent, Ajoy; Nasser, Fadi; Khateb, Samer; Vargas, Mauricio E.; Thiadens, Alberta A. H. J.; de Carvalho, Emanuel R.; Xuan-Thanh-An Nguyen; De Guimaraes, Thales Antonio 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; Inmaculada Martin-Merida, Maria; Avila-Fernandez, Almudena; Carreno, 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.; Heon, 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 (vol 11, pg 1526, 2021)
SCIENTIFIC REPORTS
IF3.9
2021-05-109
OAAI
Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez 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
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

Usher综合征和MYO7A致病变异患者的基因型-表型相关性: 对未来临床试验的影响

ACTA OPHTHALMOLOGICA
IF2.8
2021-02-118
OAAI
Galbis-Martinez, Lilian; Blanco-Kelly, Fiona; Garcia-Garcia, Gema; Avila-Fernandez, Almudena; Jaijo, Teresa; Fuster-Garcia, Carla; Perea-Romero, Irene; Zurita-Munoz, Olga; Jimenez-Rolando, Belen; Carreno, Ester; Garcia-Sandoval, Blanca; Millan, Jose M.; Ayuso, Carmen
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

西班牙6089遗传性视网膜营养不良影响病例的遗传景观及其治疗和扩展的流行病学意义

SCIENTIFIC REPORTS
IF3.9
2021-01-1597
OAAI
Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez 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
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2020-11-0123
OAAI
Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Blanco-Kelly, Fiona; Aguirre-Lamban, Jana; Martin-Merida, Inmaculada; Iancu, Ionut-Florin; Swafiri, Saoud; Lorda-Sanchez, Isabel; Rodriguez-Pinilla, Elvira; Jose Trujillo-Tiebas, Maria; Jimenez-Rolando, Belen; Carreno, Ester; Mahillo-Fernandez, Ignacio; Rivolta, Carlo; Corton, Marta; Avila-Fernandez, Almudena; Garcia-Sandoval, Blanca; Ayuso, Carmen
CSVS, a crowdsourcing database of the Spanish population genetic variability
NUCLEIC ACIDS RESEARCH
IF13.1
2020-09-2937
OAAI
Pena-Chilet, Maria; Roldan, Gema; Perez-Florido, Javier; Ortuno, Francisco M.; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L.; Gallego, Asuncion; Garcia-Garcia, Francisco; Gonzalez-Neira, Anna; Pita, Guillermo; Nunez-Torres, Rocio; Santoyo-Lopez, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Angel; Morin, Matias; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A.; Borrego, Salud; Antinolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Carracedo, Angel; Alonso, Angel; Dopazo, Joaquin
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

IMPG1的致病变异导致常染色体显性和常染色体隐性视网膜色素变性

JOURNAL OF MEDICAL GENETICS
IF3.7
2020-08-1713
PREAI
Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K.; Sergouniotis, Panagiotis, I; Le Meur, Guylene; Dhaenens, Claire-Marie; Naacke, Helene; Avila-Fernandez, Almudena; Hoyng, Carel B.; Klevering, Jeroen; Bocquet, Beatrice; Roubertie, Agathe; Senechal, Audrey; Banfi, Sandro; Muller, Agnes; Hamel, Christian L.; Black, Graeme C.; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gael
Genomic Landscape of Sporadic Retinitis Pigmentosa Findings from 877 Spanish Cases
OPHTHALMOLOGY
IF9.5
2019-08-0152
PREAI
Martin-Merida, Inmaculada; Avila-Fernandez, Almudena; Del Pozo-Valero, Marta; Blanco-Kelly, Fiona; Zurita, Olga; Perez-Carro, Raquel; Aguilera-Garcia, Domingo; Riveiro-Alvarez, Rosa; Arteche, Ana; Jose Trujillo-Tiebas, Maria; Tahsin-Swafiri, Saoud; Rodriguez-Pinilla, Elvira; Lorda-Sanchez, Isabel; Garcia-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
SCIENTIFIC REPORTS
IF3.9
2018-03-2728
OAAI
Sanchez-Navarro, Iker; da Silva, Luciana R. J.; Blanco-Kelly, Fiona; Zurita, Olga; Sanchez-Bolivar, Noelia; Villaverde, Cristina; Isabel Lopez-Molina, Maria; Garcia-Sandoval, Blanca; Tahsin-Swafiri, Saoud; Minguez, Pablo; Riveiro-Alvarez, Rosa; Lorda, Isabel; Sanchez-Alcudia, Rocio; Perez-Carro, Raquel; Valverde, Diana; Liu, Yichuan; Tian, Lifeng; Hakonarson, Hakon; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

西班牙常染色体显性遗传性视网膜色素变性患者的PRPF31基因分析: 一种新的基因组重排

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2017-02-1323
OAAI
Martin-Merida, Inmaculada; Sanchez-Alcudia, Rocio; Jose, Patricia Fernandez-San; Blanco-Kelly, Fiona; Perez-Carro, Raquel; da Silva, Luciana Rodriguez-Jacy; Almoguera, Berta; Garcia-Sandoval, Blanca; Lopez-Molina, Maria Isabel; Avila-Fernandez, Almudena; Carballo, Miguel; Corton, Marta; Ayuso, Carmen
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (vol 6, 19531, 2016)
SCIENTIFIC REPORTS
IF3.9
2016-04-220
OAAI
Perez-Carro, Raquel; Corton, Marta; Sanchez-Navarro, Iker; Zurita, Olga; Sanchez-Bolivar, Noelia; Sanchez-Alcudia, Rocio; Lelieveld, Stefan H.; Aller, Elena; Angel Lopez-Martinez, Miguel; Isabel Lopez-Molina, Ma; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Gilissen, Christian; Millan, Jose M.; Avila-Fernandez, Almudena; Ayuso, Carmen

研究方向

暂未获取到该数据
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
M
Marta Cortón
H 指数:39论文数:177被引数:5,003
F
Fiona Blanco‐Kelly
H 指数:33论文数:103被引数:2,831
B
Blanca Garcı́a-Sandoval
H 指数:27论文数:83被引数:1,935
R
Rosa Riveiro-Álvarez
H 指数:31论文数:78被引数:2,507
M
María José Trujillo-Tiebas
H 指数:24论文数:105被引数:1,845
B
Belén Jimenez‐Rolando
H 指数:12论文数:30被引数:632
I
Inmaculada Martín-Mérida
H 指数:12论文数:40被引数:614
O
Olga Zurita
H 指数:11论文数:40被引数:651
R
Raquel Pérez-Carro
H 指数:14论文数:31被引数:702