UAB Digital Repository of Documents 2 records found  Search took 0.01 seconds. 
11 p, 788.9 KB Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome / García Castaño, Alejandro (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Pérez de Nanclares, Gustavo (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Madariaga, Leire (Universidad del País Vasco. Departamento de Pediatría) ; Aguirre, Mireia (Hospital Universitario Cruces, Bizkaia) ; Madrid, Álvaro (Hospital Universitari Vall d'Hebron) ; Chocrón, Sara (Hospital Universitari Vall d'Hebron) ; Nadal, Inmaculada (Hospital Virgen del Camino, Pamplona) ; Navarro, Mercedes (Hospital Universitario La Paz, Madrid) ; Lucas, Elena (Hospital de Manises, Valencia) ; Fijo, Julia (Hospital Virgen del Rocio, Sevilla) ; Espino, Mar (Hospital Universitario Fundación Alcorcón) ; Espitaletta, Zilac (Hospital Universitario San Ignacio, Bogotá) ; García Nieto, Víctor (Hospital Universitario Nuestra Señora de Candelaria, Tenerife) ; Barajas de Frutos, David (Hospital Virgen de las Nieves, Granada) ; Loza, Reyner (Hospital Cayetano Heredia, Lima) ; Pintos, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castaño, Luis (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Grupo RenalTube ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. [...]
2017 - 10.1371/journal.pone.0173581
PloS one, Vol. 12 Núm. 3 (2017) , p. 1-11  
8 p, 444.5 KB Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity / Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Trujillano, Daniel (CIBER in Epidemiology and Public Health (CIBERESP)) ; Santín, Sheila (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG)) ; Mendizábal, Santiago (Pediatric Nephrology Department, Hospital Universitario La Fe) ; Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ; Madrid, Álvaro (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ariceta, Gema (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (CIBER in Epidemiology and Public Health (CIBERESP)) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Instituto de Salud Carlos III
Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive parallel sequencing and to study whether mutations in multiple genes increase disease severity. [...]
2014 - 10.1038/ejhg.2014.252
European Journal of Human Genetics, Vol. 23 (november 2014) , p. 1192-1199  

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