Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Roser Gonzalez-Duarte"'
Autor:
Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e51622 (2013)
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosi
Externí odkaz:
https://doaj.org/article/29dac93162e44f828a2d726fc0dc1501
Autor:
Kathryn L. Kavanagh, Rebekka Mindnich, Trevor M. Penning, Jerzy Adamski, Yvonne Kallberg, Michael Kisiela, Roser Gonzalez Duarte, Bengt Persson, Udo Oppermann, James E. Bray, Sandra Orchard, Hans Jörnvall, Elspeth A. Bruford, Stephen L. Dellaporta, Edmund Maser, Natalia Y. Kedishvili, Janet M. Thornton, Angelo D. Favia
Publikováno v:
Chemico-biological interactions. (1-3)
Short-chain dehydrogenases/reductases (SDR) constitute one of the largest enzyme superfamilies with presently over 46 000 members. In phylogenetic comparisons, members of this superfamily show early divergence where the majority have only low pair-wi
Publikováno v:
Molecular vision. 13
To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles.Intragenic single nucleotide polymorphisms (SNPs) genotyping and mutational screening of CY
Autor:
Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The gener
Externí odkaz:
https://doaj.org/article/007177dfa7d9420e83e8249eeaa7ae0e
Autor:
Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168966 (2016)
NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD).A cohort of 33 pe
Externí odkaz:
https://doaj.org/article/bd0127ebb2b94afb975e06e7336f2a8c
Autor:
Roser Gonzàlez-Duarte
Publikováno v:
Revista de Bioética y Derecho, Vol 0, Iss 8, Pp 1-22 (2009)
Externí odkaz:
https://doaj.org/article/af21db06c48d4743a05bf7f2c314b4d3
Publikováno v:
Revista de Bioética y Derecho, Vol 0, Iss 9, Pp 1-56 (2009)
Externí odkaz:
https://doaj.org/article/e929d55ed082401f921bffe34cc42a85
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135307 (2015)
Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA). The identification of RP gen
Externí odkaz:
https://doaj.org/article/08fa36b2d9724b3ea0712c7ceda7fde7
Autor:
Alihamze Fathinajafabadi, Eva Pérez-Jiménez, Marina Riera, Erwin Knecht, Roser Gonzàlez-Duarte
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e87898 (2014)
The function of CERKL (CERamide Kinase Like), a causative gene of retinitis pigmentosa and cone-rod dystrophy, still awaits characterization. To approach its cellular role we have investigated the subcellular localization and interaction partners of
Externí odkaz:
https://doaj.org/article/137b022134104c63822854c025b0a0c2
Autor:
Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88410 (2014)
Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders. Concerning Retinal Dystrophies (RD), almost 200 causative gen
Externí odkaz:
https://doaj.org/article/d0a48a4c4e1d4db78d8ccac696c64cc0