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Belén Jimenez-Rolando

ciberer
H指数:12
被引数:634

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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy

常染色体隐性IMPG2相关视网膜变性的自然史

American Journal of Ophthalmology
IF4.2
2025-06-060
OA
Michalis Georgiou; Kaoru Fujinami; Yu Fujinami-Yokokawa; Fadi Nasser; Michael J. Gale; Carmen Ayuso; Omar A. Mahroo; Nikolas Pontikos; Zaina Bouzia; Belen Jimenez-Rolando; Ester Carreño; Rigmor C. Baraas; Josephine P. Holtan; Ragnheidur Bragadottir; Alberta A.H.J. Thiadens; Monika G. Pechhacker; Ajoy Vincent; Elise Héon; Alaa Altalbishi; Ramiro S. Maldonado; Michel Michaelides
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
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1

KCNV2-Associated视网膜病变: 遗传学、电生理学和临床Course-KCNV2研究组报告1

AMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
2021-05-0120
OAAI
Georgiou, Michalis; Robson, Anthony G.; Fujinami, Kaoru; Leo, Shaun M.; Vincent, Ajoy; Nasser, Fadi; De Guimaraes, Thales Antonio Cabral; 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.; Inmaculada Martin-Merida, Maria; Jimenez-Rolando, Belen; Gordo, Gema; Carreno, Ester; Carmen, Ayuso; 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; Heon, Elise; Michaelides, Michel
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
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

RAX2的双等位基因序列和结构变异是常染色体隐性遗传性视网膜疾病的新原因

GENETICS IN MEDICINE
IF6.2
2019-06-0115
OAAI
Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019)
GENETICS IN MEDICINE
IF6.2
2019-04-010
OAAI
Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride

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
E
Ester Carreño
H 指数:27论文数:187被引数:3,226
A
Almudena Ávila‐Fernández
H 指数:32论文数:128被引数:2,625
M
Marta Cortón
H 指数:39论文数:177被引数:5,011
F
Fiona Blanco‐Kelly
H 指数:33论文数:103被引数:2,841
B
Blanca Garcı́a-Sandoval
H 指数:27论文数:83被引数:1,938
R
Rosa Riveiro-Álvarez
H 指数:31论文数:78被引数:2,511
M
Marta Del Pozo‐Valero
H 指数:12论文数:36被引数:757
S
Saoud Tahsin Swafiri
H 指数:15论文数:34被引数:768
I
Inmaculada Martín-Mérida
H 指数:12论文数:40被引数:614