P
Patricia Ruiz
Researcher at Autonomous University of Barcelona
Publications - 62
Citations - 1621
Patricia Ruiz is an academic researcher from Autonomous University of Barcelona. The author has contributed to research in topics: Liver transplantation & Genetic testing. The author has an hindex of 18, co-authored 59 publications receiving 1262 citations. Previous affiliations of Patricia Ruiz include Université catholique de Louvain & Carlos III Health Institute.
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Journal ArticleDOI
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Sheila Santín,Gemma Bullich,Bárbara Tazón-Vega,Rafael García-Maset,Isabel Giménez,Irene Silva,Patricia Ruiz,José Ballarín,Roser Torra,Elisabet Ars +9 more
TL;DR: A genetic testing algorithm for SRNS is proposed based on the age at onset and the familial/sporadic status, which suggests that mutation analysis of specific podocyte-genes has a clinical value in all age groups, especially in children.
Journal ArticleDOI
Normothermic regional perfusion vs. super-rapid recovery in controlled donation after circulatory death liver transplantation.
Amelia J. Hessheimer,Elisabeth Coll,Ferran Torres,Patricia Ruiz,Mikel Gastaca,José Ignacio Rivas,Manuel Gómez,B. Sanchez,Julio Santoyo,Pablo Ramírez,Pascual Parrilla,Luis Miguel Marín,Miguel Ángel Gómez-Bravo,Juan Carlos García-Valdecasas,Javier López-Monclús,Andrea Boscá,Rafael López-Andújar,Jiliam Fundora-Suárez,Jesús Villar,Álvaro García-Sesma,Carlos Jiménez,G. Rodriguez-Laiz,Laura Lladó,Juan Carlos Rodríguez,Manuel Barrera,Ramón Charco,Jose Ángel López-Baena,Javier Briceño,Fernando Pardo,Gerardo Blanco,David Pacheco,Beatriz Domínguez-Gil,Víctor Sánchez Turrión,Constantino Fondevila +33 more
TL;DR: The study results suggest that the use of postmortem normothermic regional perfusion helps reduce rates of post-transplant biliary complications and graft loss and allows for the successful transplantation of livers from older cDCD donors of advanced age.
Journal ArticleDOI
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Sheila Santín,Rafael García-Maset,Patricia Ruiz,Isabel Giménez,Isabel Zamora,Antonia Peña,A. Madrid,Juan Antonio Camacho,Gloria Fraga,Ana Sánchez-Moreno,Maria Angeles Cobo,Carmen Bernis,Alberto Ortiz,Augusto Luque de Pablos,Guillem Pintos,Maria Luisa Justa,Emilia Hidalgo-Barquero,Patricia Fernández-Llama,José Ballarín,Elisabet Ars,Roser Torra +20 more
TL;DR: An in silico scoring matrix is developed to evaluate the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino- acid residue in orthologs, and defined domains, with the addition of contextual information.
Journal ArticleDOI
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis
Sheila Santín,Elisabet Ars,Sandro Rossetti,Eduardo Salido,Irene Silva,Rafael García-Maset,Isabel Giménez,Patricia Ruiz,Santiago Mendizábal,José Luciano Nieto,Antonia Peña,Juan Antonio Camacho,Gloria Fraga,Mª Ángeles Cobo,Carmen Bernis,Alberto Ortiz,Augusto Luque de Pablos,Ana Sánchez-Moreno,Guillem Pintos,E Mirapeix,Patricia Fernández-Llama,José Ballarín,Roser Torra +22 more
TL;DR: It seems that TRPC6 is a gene with a very variable penetrance that may contribute to glomerular diseases in a multi-hit setting.
Journal ArticleDOI
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Gemma Bullich,Andrea Domingo-Gallego,Ivan Vargas,Patricia Ruiz,Laura Lorente-Grandoso,Mónica Furlano,Gloria Fraga,A. Madrid,Gema Ariceta,Mar Borregan,Juan Alberto Piñero-Fernández,Lidia Rodríguez-Peña,María Juliana Ballesta-Martínez,Isabel Llano-Rivas,Mireia Aguirre Meñica,José Ballarín,David Torrents,David Torrents,Roser Torra,Elisabet Ars +19 more
TL;DR: The kidney-disease gene panel is a comprehensive, noninvasive, and cost-effective tool for genetic diagnosis of cystic and glomerular inherited kidney diseases that allows etiologic diagnosis in three-quarters of patients and is especially valuable in patients with unspecific or atypical phenotypes.