Roser Gonzàlez‐Duarte - Publications, H-index & Citations

Roser Gonzàlez‐Duarte

university of barcelona

36H指数

115论文数

5.1K被引数

收录论文 33

发表时间

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype 由CRISPR-Cas9产生的新的Cerkl小鼠模型显示进行性视网膜变性和改变的形态和电生理表型

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2020-07-13

OAAI

Domenech, Elena B.; Andres, Rosa; Jose Lopez-Iniesta, M.; Mirra, Serena; Garcia-Arroyo, Rocio; Milla, Santiago; Sava, Florentina; Andilla, Jordi; Loza-Alvarez, Pablo; de la Villa, Pedro; Gonzalez-Duarte, Roser; Marfany, Gemma

RPGeNet v2.0: expanding the universe of retinal disease gene interactions network

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION

IF3.6

2019-11-11

OAAI

Arenas-Galnares, Rodrigo; Castillo-Lara, Sergio; Toulis, Vasileios; Boloc, Daniel; Gonzalez-Duarte, Roser; Marfany, Gemma; Abril, Josep F.

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families

BRITISH JOURNAL OF OPHTHALMOLOGY

IF3.5

2018-01-24

PREAI

de Castro-Miro, Marta; Tonda, Raul; Marfany, Gemma; Casaroli-Marano, Ricardo P.; Gonzalez-Duarte, Roser

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

EXPERIMENTAL EYE RESEARCH

IF2.7

2013-05-01

OAAI

Garanto, Alejandro; Mandal, Nawajes A.; Egido-Gabas, Meritxell; Marfany, Gemma; Fabrias, Gemma; Anderson, Robert E.; Casas, Josefina; Gonzalez-Duarte, Roser

An intact eight-membered water chain in drosophilid alcohol dehydrogenases is essential for optimal enzyme activity drosophilid醇脱氢酶中完整的八元水链对于最佳酶活性至关重要

FEBS JOURNAL

IF4.2

2012-07-19

PREAI

Wuxiuer, Yimingjiang; Morgunova, Ekaterina; Cols, Neus; Popov, Alexander; Karshikoff, Andrey; Sylte, Ingebrigt; Gonzalez-Duarte, Roser; Ladenstein, Rudolf; Winberg, Jan-Olof

Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2012-01-30

PREAI

Pomares, Esther; Bures-Jelstrup, Anniken; Ruiz-Nogales, Sheila; Corcostegui, Borja; Gonzalez-Duarte, Roser; Navarro, Rafael

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-07-13

OAAI

Garanto, Alejandro; Riera, Marina; Pomares, Esther; Permanyer, Jon; de Castro-Miro, Marta; Sava, Florentina; Abril, Josep F.; Marfany, Gemma; Gonzalez-Duarte, Roser

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2010-05-01

OAAI

Permanyer, Jon; Navarro, Rafael; Friedman, James; Pomares, Esther; Castro-Navarro, Joaquin; Marfany, Gemma; Swaroop, Anand; Gonzalez-Duarte, Roser

Identification of an Intronic Single-Point Mutation in RP2 as the Cause of Semidominant X-linked Retinitis Pigmentosa

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2009-11-01

PREAI

Pomares, Esther; Riera, Marina; Castro-Navarro, Joaquin; Andres-Gutierrez, Angeles; Gonzalez-Duarte, Roser; Marfany, Gemma

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2009-07-08

OAAI

Pomares, Esther; Riera, Marina; Permanyer, Jon; Mendez, Pilar; Castro-Navarro, Joaquin; Andres-Gutierrez, Angeles; Marfany, Gemma; Gonzalez-Duarte, Roser

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

BRITISH JOURNAL OF OPHTHALMOLOGY

IF3.5

2008-09-24

PREAI

Brea-Fernandez, A. J.; Pomares, E.; Brion, M. J.; Marfany, G.; Blanco, M. J.; Sanchez-Salorio, M.; Gonzalez-Duarte, R.; Carracedo, A.

Novel high-throughput SNP genotypling cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

HUMAN MUTATION

IF3.7

2007-05-01

OAAI

Pomares, Esther; Marfany, Gemma; Brion, Ma Jose; Carracedo, Angel; Gonzalez-Duarte, Roser

The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins 泛素特异性蛋白酶USP25与三种肌节蛋白相互作用

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2006-02-23

OAAI

Bosch-Comas, A; Lindsten, K; Gonzàlez-Duarte, R; Masucci, MG; Marfany, G

Merging protein, gene and genomic data:: the evolution of the MDR-ADH family

HEREDITY

IF3.9

2005-08-25

OAAI

Gonzàlez-Duarte, R; Albalat, R

Functional implications of the presenilin dimerization -: Reconstitution of γ-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically inactive presenilins

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2004-08-01

OAAI

Cervantes, S; Saura, CA; Pomares, E; Gonzàlez-Duarte, R; Marfany, G

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)一种新的人类神经酰胺激酶基因CERKL的突变导致常染色体隐性视网膜色素变性 (RP26)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2004-01-01

174

OAAI

Tuson, M; Marfany, G; Gonzàlez-Duarte, R

The non-LTR retrotransposons in Ciona intestinalis:: new insights into the evolution of chordate genomes -: art. no. R73

GENOME BIOLOGY

IF9.4

2003-10-21

OAAI

Permanyer, J; González-Duarte, R; Albalat, R

Analysis of ABCA4 in Mixed Spanish Families Segregating Different Retinal Dystrophies

HUMAN MUTATION

IF3.7

2002-11-19

OAAI

Paloma, Eva; Coco, Rosa; Martinez-Mir, Amalia; Vilageliu, Lluisa; Balcells, Susana; Gonzalez-Duarte, Roser

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

GENOME BIOLOGY

IF9.4

2002-05-14

183

OAAI

Hjelmqvist, Lars; Tuson, Miquel; Marfany, Gemma; Herrero, Enric; Balcells, Susana; Gonzalez-Duarte, Roser

The ABCA4 2588G > C Stargardt mutation:: Single origin and increasing frequency from South-West to North-East Europe

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2002-04-25

OAAI

Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzàlez-Duarte, R; Kaplan, J; Meerman, GJT; Santoss, R; Schwartz, M; Van Camp, G; Wadelius, C; Weber, BHF; Cremers, FPM

研究方向